SNP Links for Protein (Select 19924156) - SNP - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 259

<< First< Prev

Page of 13

Select item 14889667361.

rs1488966736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:19193957 (GRCh38)
19:19304766 (GRCh37)
Canonical SPDI:: NC_000019.10:19193956:C:T
Gene:: BORCS8-MEF2B (Varview), RFXANK (Varview), BORCS8 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.19193957C>T, NC_000019.9:g.19304766C>T, NG_007432.1:g.6759C>T, NM_003721.4:c.11C>T, NM_003721.3:c.11C>T, NM_134440.3:c.11C>T, NM_134440.2:c.11C>T, NM_001278727.2:c.11C>T, NM_001278727.1:c.11C>T, NM_001278728.2:c.11C>T, NM_001278728.1:c.11C>T, NM_001370235.1:c.11C>T, NM_001370238.1:c.11C>T, NM_001370237.1:c.11C>T, NM_001370233.1:c.11C>T, NM_001370236.1:c.11C>T, NM_001370234.1:c.11C>T, XM_005260134.6:c.11C>T, XM_005260134.5:c.11C>T, XM_005260134.4:c.11C>T, XM_005260134.3:c.11C>T, XM_005260134.2:c.11C>T, XM_005260134.1:c.11C>T, XM_005260137.5:c.11C>T, XM_005260137.4:c.11C>T, XM_005260137.3:c.11C>T, XM_005260137.2:c.11C>T, XM_005260137.1:c.11C>T, XM_047439590.1:c.11C>T, XM_047439586.1:c.11C>T, XM_047439589.1:c.11C>T, XM_047439593.1:c.11C>T, XM_047439588.1:c.11C>T, XM_047439587.1:c.11C>T, XM_047439591.1:c.11C>T, XM_047439594.1:c.11C>T, XM_047439592.1:c.11C>T, NP_003712.1:p.Thr4Ile, NP_604389.1:p.Thr4Ile, NP_001265656.1:p.Thr4Ile, NP_001265657.1:p.Thr4Ile, NP_001357164.1:p.Thr4Ile, NP_001357167.1:p.Thr4Ile, NP_001357166.1:p.Thr4Ile, NP_001357162.1:p.Thr4Ile, NP_001357165.1:p.Thr4Ile, NP_001357163.1:p.Thr4Ile, XP_005260191.1:p.Thr4Ile, XP_005260194.1:p.Thr4Ile, XP_047295546.1:p.Thr4Ile, XP_047295542.1:p.Thr4Ile, XP_047295545.1:p.Thr4Ile, XP_047295549.1:p.Thr4Ile, XP_047295544.1:p.Thr4Ile, XP_047295543.1:p.Thr4Ile, XP_047295547.1:p.Thr4Ile, XP_047295550.1:p.Thr4Ile, XP_047295548.1:p.Thr4Ile

Select item 14837305992.

rs1483730599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:19198115 (GRCh38)
19:19308924 (GRCh37)
Canonical SPDI:: NC_000019.10:19198114:C:A
Gene:: RFXANK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.19198115C>A, NC_000019.9:g.19308924C>A, NG_007432.1:g.10917C>A, NM_003721.4:c.447C>A, NM_003721.3:c.447C>A, NM_134440.3:c.378C>A, NM_134440.2:c.378C>A, NM_001278727.2:c.381C>A, NM_001278727.1:c.381C>A, NM_001278728.2:c.378C>A, NM_001278728.1:c.378C>A, NM_001370235.1:c.444C>A, NM_001370238.1:c.447C>A, NM_001370237.1:c.444C>A, NM_001370233.1:c.447C>A, NM_001370236.1:c.444C>A, NM_001370234.1:c.381C>A, XM_005260134.6:c.447C>A, XM_005260134.5:c.447C>A, XM_005260134.4:c.447C>A, XM_005260134.3:c.447C>A, XM_005260134.2:c.447C>A, XM_005260134.1:c.447C>A, XM_005260137.5:c.444C>A, XM_005260137.4:c.444C>A, XM_005260137.3:c.444C>A, XM_005260137.2:c.444C>A, XM_005260137.1:c.444C>A, XM_047439590.1:c.444C>A, XM_047439586.1:c.447C>A, XM_047439589.1:c.444C>A, XM_047439593.1:c.378C>A, XM_047439588.1:c.447C>A, XM_047439587.1:c.447C>A, XM_047439591.1:c.381C>A, XM_047439594.1:c.444C>A, XM_047439592.1:c.378C>A, NP_003712.1:p.Asp149Glu, NP_604389.1:p.Asp126Glu, NP_001265656.1:p.Asp127Glu, NP_001265657.1:p.Asp126Glu, NP_001357164.1:p.Asp148Glu, NP_001357167.1:p.Asp149Glu, NP_001357166.1:p.Asp148Glu, NP_001357162.1:p.Asp149Glu, NP_001357165.1:p.Asp148Glu, NP_001357163.1:p.Asp127Glu, XP_005260191.1:p.Asp149Glu, XP_005260194.1:p.Asp148Glu, XP_047295546.1:p.Asp148Glu, XP_047295542.1:p.Asp149Glu, XP_047295545.1:p.Asp148Glu, XP_047295549.1:p.Asp126Glu, XP_047295544.1:p.Asp149Glu, XP_047295543.1:p.Asp149Glu, XP_047295547.1:p.Asp127Glu, XP_047295550.1:p.Asp148Glu, XP_047295548.1:p.Asp126Glu

Select item 14817045123.

rs1481704512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:19197589 (GRCh38)
19:19308398 (GRCh37)
Canonical SPDI:: NC_000019.10:19197588:G:A
Gene:: RFXANK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.19197589G>A, NC_000019.9:g.19308398G>A, NG_007432.1:g.10391G>A, NM_003721.4:c.406G>A, NM_003721.3:c.406G>A, NM_134440.3:c.337G>A, NM_134440.2:c.337G>A, NM_001278727.2:c.340G>A, NM_001278727.1:c.340G>A, NM_001278728.2:c.337G>A, NM_001278728.1:c.337G>A, NM_001370235.1:c.403G>A, NM_001370238.1:c.406G>A, NM_001370237.1:c.403G>A, NM_001370233.1:c.406G>A, NM_001370236.1:c.403G>A, NM_001370234.1:c.340G>A, XM_005260134.6:c.406G>A, XM_005260134.5:c.406G>A, XM_005260134.4:c.406G>A, XM_005260134.3:c.406G>A, XM_005260134.2:c.406G>A, XM_005260134.1:c.406G>A, XM_005260137.5:c.403G>A, XM_005260137.4:c.403G>A, XM_005260137.3:c.403G>A, XM_005260137.2:c.403G>A, XM_005260137.1:c.403G>A, XM_047439590.1:c.403G>A, XM_047439586.1:c.406G>A, XM_047439589.1:c.403G>A, XM_047439593.1:c.337G>A, XM_047439588.1:c.406G>A, XM_047439587.1:c.406G>A, XM_047439591.1:c.340G>A, XM_047439594.1:c.403G>A, XM_047439592.1:c.337G>A, NP_003712.1:p.Glu136Lys, NP_604389.1:p.Glu113Lys, NP_001265656.1:p.Glu114Lys, NP_001265657.1:p.Glu113Lys, NP_001357164.1:p.Glu135Lys, NP_001357167.1:p.Glu136Lys, NP_001357166.1:p.Glu135Lys, NP_001357162.1:p.Glu136Lys, NP_001357165.1:p.Glu135Lys, NP_001357163.1:p.Glu114Lys, XP_005260191.1:p.Glu136Lys, XP_005260194.1:p.Glu135Lys, XP_047295546.1:p.Glu135Lys, XP_047295542.1:p.Glu136Lys, XP_047295545.1:p.Glu135Lys, XP_047295549.1:p.Glu113Lys, XP_047295544.1:p.Glu136Lys, XP_047295543.1:p.Glu136Lys, XP_047295547.1:p.Glu114Lys, XP_047295550.1:p.Glu135Lys, XP_047295548.1:p.Glu113Lys

Select item 14810389794.

rs1481038979 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:19199177 (GRCh38)
19:19309986 (GRCh37)
Canonical SPDI:: NC_000019.10:19199176:G:A
Gene:: RFXANK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.19199177G>A, NC_000019.9:g.19309986G>A, NG_007432.1:g.11979G>A, NM_003721.4:c.655G>A, NM_003721.3:c.655G>A, NM_134440.3:c.586G>A, NM_134440.2:c.586G>A, NM_001278727.2:c.589G>A, NM_001278727.1:c.589G>A, NM_001278728.2:c.586G>A, NM_001278728.1:c.586G>A, NM_001370235.1:c.652G>A, NM_001370238.1:c.655G>A, NM_001370237.1:c.652G>A, NM_001370233.1:c.655G>A, NM_001370236.1:c.652G>A, NM_001370234.1:c.589G>A, XM_005260134.6:c.655G>A, XM_005260134.5:c.655G>A, XM_005260134.4:c.655G>A, XM_005260134.3:c.655G>A, XM_005260134.2:c.655G>A, XM_005260134.1:c.655G>A, XM_005260137.5:c.652G>A, XM_005260137.4:c.652G>A, XM_005260137.3:c.652G>A, XM_005260137.2:c.652G>A, XM_005260137.1:c.652G>A, XM_047439590.1:c.652G>A, XM_047439586.1:c.655G>A, XM_047439589.1:c.652G>A, XM_047439593.1:c.586G>A, XM_047439588.1:c.655G>A, XM_047439587.1:c.655G>A, XM_047439591.1:c.589G>A, XM_047439594.1:c.652G>A, XM_047439592.1:c.586G>A, NP_003712.1:p.Glu219Lys, NP_604389.1:p.Glu196Lys, NP_001265656.1:p.Glu197Lys, NP_001265657.1:p.Glu196Lys, NP_001357164.1:p.Glu218Lys, NP_001357167.1:p.Glu219Lys, NP_001357166.1:p.Glu218Lys, NP_001357162.1:p.Glu219Lys, NP_001357165.1:p.Glu218Lys, NP_001357163.1:p.Glu197Lys, XP_005260191.1:p.Glu219Lys, XP_005260194.1:p.Glu218Lys, XP_047295546.1:p.Glu218Lys, XP_047295542.1:p.Glu219Lys, XP_047295545.1:p.Glu218Lys, XP_047295549.1:p.Glu196Lys, XP_047295544.1:p.Glu219Lys, XP_047295543.1:p.Glu219Lys, XP_047295547.1:p.Glu197Lys, XP_047295550.1:p.Glu218Lys, XP_047295548.1:p.Glu196Lys

Select item 14809413105.

rs1480941310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:19198696 (GRCh38)
19:19309505 (GRCh37)
Canonical SPDI:: NC_000019.10:19198695:C:T
Gene:: RFXANK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.19198696C>T, NC_000019.9:g.19309505C>T, NG_007432.1:g.11498C>T, NM_003721.4:c.604C>T, NM_003721.3:c.604C>T, NM_134440.3:c.535C>T, NM_134440.2:c.535C>T, NM_001278727.2:c.538C>T, NM_001278727.1:c.538C>T, NM_001278728.2:c.535C>T, NM_001278728.1:c.535C>T, NM_001370235.1:c.601C>T, NM_001370238.1:c.604C>T, NM_001370237.1:c.601C>T, NM_001370233.1:c.604C>T, NM_001370236.1:c.601C>T, NM_001370234.1:c.538C>T, XM_005260134.6:c.604C>T, XM_005260134.5:c.604C>T, XM_005260134.4:c.604C>T, XM_005260134.3:c.604C>T, XM_005260134.2:c.604C>T, XM_005260134.1:c.604C>T, XM_005260137.5:c.601C>T, XM_005260137.4:c.601C>T, XM_005260137.3:c.601C>T, XM_005260137.2:c.601C>T, XM_005260137.1:c.601C>T, XM_047439590.1:c.601C>T, XM_047439586.1:c.604C>T, XM_047439589.1:c.601C>T, XM_047439593.1:c.535C>T, XM_047439588.1:c.604C>T, XM_047439587.1:c.604C>T, XM_047439591.1:c.538C>T, XM_047439594.1:c.601C>T, XM_047439592.1:c.535C>T, NP_003712.1:p.His202Tyr, NP_604389.1:p.His179Tyr, NP_001265656.1:p.His180Tyr, NP_001265657.1:p.His179Tyr, NP_001357164.1:p.His201Tyr, NP_001357167.1:p.His202Tyr, NP_001357166.1:p.His201Tyr, NP_001357162.1:p.His202Tyr, NP_001357165.1:p.His201Tyr, NP_001357163.1:p.His180Tyr, XP_005260191.1:p.His202Tyr, XP_005260194.1:p.His201Tyr, XP_047295546.1:p.His201Tyr, XP_047295542.1:p.His202Tyr, XP_047295545.1:p.His201Tyr, XP_047295549.1:p.His179Tyr, XP_047295544.1:p.His202Tyr, XP_047295543.1:p.His202Tyr, XP_047295547.1:p.His180Tyr, XP_047295550.1:p.His201Tyr, XP_047295548.1:p.His179Tyr

Select item 14793071256.

rs1479307125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:19199183 (GRCh38)
19:19309992 (GRCh37)
Canonical SPDI:: NC_000019.10:19199182:G:A,NC_000019.10:19199182:G:T
Gene:: RFXANK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
A=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.19199183G>A, NC_000019.10:g.19199183G>T, NC_000019.9:g.19309992G>A, NC_000019.9:g.19309992G>T, NG_007432.1:g.11985G>A, NG_007432.1:g.11985G>T, NM_003721.4:c.661G>A, NM_003721.4:c.661G>T, NM_003721.3:c.661G>A, NM_003721.3:c.661G>T, NM_134440.3:c.592G>A, NM_134440.3:c.592G>T, NM_134440.2:c.592G>A, NM_134440.2:c.592G>T, NM_001278727.2:c.595G>A, NM_001278727.2:c.595G>T, NM_001278727.1:c.595G>A, NM_001278727.1:c.595G>T, NM_001278728.2:c.592G>A, NM_001278728.2:c.592G>T, NM_001278728.1:c.592G>A, NM_001278728.1:c.592G>T, NM_001370235.1:c.658G>A, NM_001370235.1:c.658G>T, NM_001370238.1:c.661G>A, NM_001370238.1:c.661G>T, NM_001370237.1:c.658G>A, NM_001370237.1:c.658G>T, NM_001370233.1:c.661G>A, NM_001370233.1:c.661G>T, NM_001370236.1:c.658G>A, NM_001370236.1:c.658G>T, NM_001370234.1:c.595G>A, NM_001370234.1:c.595G>T, XM_005260134.6:c.661G>A, XM_005260134.6:c.661G>T, XM_005260134.5:c.661G>A, XM_005260134.5:c.661G>T, XM_005260134.4:c.661G>A, XM_005260134.4:c.661G>T, XM_005260134.3:c.661G>A, XM_005260134.3:c.661G>T, XM_005260134.2:c.661G>A, XM_005260134.2:c.661G>T, XM_005260134.1:c.661G>A, XM_005260134.1:c.661G>T, XM_005260137.5:c.658G>A, XM_005260137.5:c.658G>T, XM_005260137.4:c.658G>A, XM_005260137.4:c.658G>T, XM_005260137.3:c.658G>A, XM_005260137.3:c.658G>T, XM_005260137.2:c.658G>A, XM_005260137.2:c.658G>T, XM_005260137.1:c.658G>A, XM_005260137.1:c.658G>T, XM_047439590.1:c.658G>A, XM_047439590.1:c.658G>T, XM_047439586.1:c.661G>A, XM_047439586.1:c.661G>T, XM_047439589.1:c.658G>A, XM_047439589.1:c.658G>T, XM_047439593.1:c.592G>A, XM_047439593.1:c.592G>T, XM_047439588.1:c.661G>A, XM_047439588.1:c.661G>T, XM_047439587.1:c.661G>A, XM_047439587.1:c.661G>T, XM_047439591.1:c.595G>A, XM_047439591.1:c.595G>T, XM_047439594.1:c.658G>A, XM_047439594.1:c.658G>T, XM_047439592.1:c.592G>A, XM_047439592.1:c.592G>T, NP_003712.1:p.Asp221Asn, NP_003712.1:p.Asp221Tyr, NP_604389.1:p.Asp198Asn, NP_604389.1:p.Asp198Tyr, NP_001265656.1:p.Asp199Asn, NP_001265656.1:p.Asp199Tyr, NP_001265657.1:p.Asp198Asn, NP_001265657.1:p.Asp198Tyr, NP_001357164.1:p.Asp220Asn, NP_001357164.1:p.Asp220Tyr, NP_001357167.1:p.Asp221Asn, NP_001357167.1:p.Asp221Tyr, NP_001357166.1:p.Asp220Asn, NP_001357166.1:p.Asp220Tyr, NP_001357162.1:p.Asp221Asn, NP_001357162.1:p.Asp221Tyr, NP_001357165.1:p.Asp220Asn, NP_001357165.1:p.Asp220Tyr, NP_001357163.1:p.Asp199Asn, NP_001357163.1:p.Asp199Tyr, XP_005260191.1:p.Asp221Asn, XP_005260191.1:p.Asp221Tyr, XP_005260194.1:p.Asp220Asn, XP_005260194.1:p.Asp220Tyr, XP_047295546.1:p.Asp220Asn, XP_047295546.1:p.Asp220Tyr, XP_047295542.1:p.Asp221Asn, XP_047295542.1:p.Asp221Tyr, XP_047295545.1:p.Asp220Asn, XP_047295545.1:p.Asp220Tyr, XP_047295549.1:p.Asp198Asn, XP_047295549.1:p.Asp198Tyr, XP_047295544.1:p.Asp221Asn, XP_047295544.1:p.Asp221Tyr, XP_047295543.1:p.Asp221Asn, XP_047295543.1:p.Asp221Tyr, XP_047295547.1:p.Asp199Asn, XP_047295547.1:p.Asp199Tyr, XP_047295550.1:p.Asp220Asn, XP_047295550.1:p.Asp220Tyr, XP_047295548.1:p.Asp198Asn, XP_047295548.1:p.Asp198Tyr

Select item 14756560447.

rs1475656044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:19198137 (GRCh38)
19:19308946 (GRCh37)
Canonical SPDI:: NC_000019.10:19198136:C:T
Gene:: RFXANK (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.19198137C>T, NC_000019.9:g.19308946C>T, NG_007432.1:g.10939C>T, NM_003721.4:c.469C>T, NM_003721.3:c.469C>T, NM_134440.3:c.400C>T, NM_134440.2:c.400C>T, NM_001278727.2:c.403C>T, NM_001278727.1:c.403C>T, NM_001278728.2:c.400C>T, NM_001278728.1:c.400C>T, NM_001370235.1:c.466C>T, NM_001370238.1:c.469C>T, NM_001370237.1:c.466C>T, NM_001370233.1:c.469C>T, NM_001370236.1:c.466C>T, NM_001370234.1:c.403C>T, XM_005260134.6:c.469C>T, XM_005260134.5:c.469C>T, XM_005260134.4:c.469C>T, XM_005260134.3:c.469C>T, XM_005260134.2:c.469C>T, XM_005260134.1:c.469C>T, XM_005260137.5:c.466C>T, XM_005260137.4:c.466C>T, XM_005260137.3:c.466C>T, XM_005260137.2:c.466C>T, XM_005260137.1:c.466C>T, XM_047439590.1:c.466C>T, XM_047439586.1:c.469C>T, XM_047439589.1:c.466C>T, XM_047439593.1:c.400C>T, XM_047439588.1:c.469C>T, XM_047439587.1:c.469C>T, XM_047439591.1:c.403C>T, XM_047439594.1:c.466C>T, XM_047439592.1:c.400C>T, NP_003712.1:p.Arg157Ter, NP_604389.1:p.Arg134Ter, NP_001265656.1:p.Arg135Ter, NP_001265657.1:p.Arg134Ter, NP_001357164.1:p.Arg156Ter, NP_001357167.1:p.Arg157Ter, NP_001357166.1:p.Arg156Ter, NP_001357162.1:p.Arg157Ter, NP_001357165.1:p.Arg156Ter, NP_001357163.1:p.Arg135Ter, XP_005260191.1:p.Arg157Ter, XP_005260194.1:p.Arg156Ter, XP_047295546.1:p.Arg156Ter, XP_047295542.1:p.Arg157Ter, XP_047295545.1:p.Arg156Ter, XP_047295549.1:p.Arg134Ter, XP_047295544.1:p.Arg157Ter, XP_047295543.1:p.Arg157Ter, XP_047295547.1:p.Arg135Ter, XP_047295550.1:p.Arg156Ter, XP_047295548.1:p.Arg134Ter

Select item 14736896758.

rs1473689675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:19197018 (GRCh38)
19:19307827 (GRCh37)
Canonical SPDI:: NC_000019.10:19197017:G:T
Gene:: RFXANK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.19197018G>T, NC_000019.9:g.19307827G>T, NG_007432.1:g.9820G>T, NM_003721.4:c.243G>T, NM_003721.3:c.243G>T, NM_134440.3:c.240G>T, NM_134440.2:c.240G>T, NM_001278727.2:c.243G>T, NM_001278727.1:c.243G>T, NM_001278728.2:c.240G>T, NM_001278728.1:c.240G>T, NM_001370235.1:c.240G>T, NM_001370238.1:c.243G>T, NM_001370237.1:c.240G>T, NM_001370233.1:c.243G>T, NM_001370236.1:c.240G>T, NM_001370234.1:c.243G>T, XM_005260134.6:c.243G>T, XM_005260134.5:c.243G>T, XM_005260134.4:c.243G>T, XM_005260134.3:c.243G>T, XM_005260134.2:c.243G>T, XM_005260134.1:c.243G>T, XM_005260137.5:c.240G>T, XM_005260137.4:c.240G>T, XM_005260137.3:c.240G>T, XM_005260137.2:c.240G>T, XM_005260137.1:c.240G>T, XM_047439590.1:c.240G>T, XM_047439586.1:c.243G>T, XM_047439589.1:c.240G>T, XM_047439593.1:c.240G>T, XM_047439588.1:c.243G>T, XM_047439587.1:c.243G>T, XM_047439591.1:c.243G>T, XM_047439594.1:c.240G>T, XM_047439592.1:c.240G>T, NP_003712.1:p.Glu81Asp, NP_604389.1:p.Glu80Asp, NP_001265656.1:p.Glu81Asp, NP_001265657.1:p.Glu80Asp, NP_001357164.1:p.Glu80Asp, NP_001357167.1:p.Glu81Asp, NP_001357166.1:p.Glu80Asp, NP_001357162.1:p.Glu81Asp, NP_001357165.1:p.Glu80Asp, NP_001357163.1:p.Glu81Asp, XP_005260191.1:p.Glu81Asp, XP_005260194.1:p.Glu80Asp, XP_047295546.1:p.Glu80Asp, XP_047295542.1:p.Glu81Asp, XP_047295545.1:p.Glu80Asp, XP_047295549.1:p.Glu80Asp, XP_047295544.1:p.Glu81Asp, XP_047295543.1:p.Glu81Asp, XP_047295547.1:p.Glu81Asp, XP_047295550.1:p.Glu80Asp, XP_047295548.1:p.Glu80Asp

Select item 14564488269.

rs1456448826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:19201663 (GRCh38)
19:19312472 (GRCh37)
Canonical SPDI:: NC_000019.10:19201662:G:A
Gene:: RFXANK (Varview), NR2C2AP (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.19201663G>A, NC_000019.9:g.19312472G>A, NG_007432.1:g.14465G>A, NM_003721.4:c.727G>A, NM_003721.3:c.727G>A, NM_134440.3:c.658G>A, NM_134440.2:c.658G>A, NM_001278727.2:c.661G>A, NM_001278727.1:c.661G>A, NM_001278728.2:c.658G>A, NM_001278728.1:c.658G>A, NM_001370235.1:c.724G>A, NM_001370238.1:c.802G>A, NM_001370237.1:c.799G>A, NM_001370233.1:c.727G>A, NM_001370236.1:c.724G>A, NM_001370234.1:c.661G>A, XM_005260134.6:c.727G>A, XM_005260134.5:c.727G>A, XM_005260134.4:c.727G>A, XM_005260134.3:c.727G>A, XM_005260134.2:c.727G>A, XM_005260134.1:c.727G>A, NM_176880.6:c.*262C>T, NM_176880.5:c.*262C>T, NM_176880.4:c.*262C>T, XM_005260137.5:c.724G>A, XM_005260137.4:c.724G>A, XM_005260137.3:c.724G>A, XM_005260137.2:c.724G>A, XM_005260137.1:c.724G>A, XM_047439590.1:c.799G>A, XM_047439586.1:c.802G>A, XM_047439589.1:c.799G>A, XM_047439593.1:c.733G>A, XM_047439588.1:c.802G>A, XM_047439587.1:c.802G>A, XM_047439591.1:c.736G>A, XM_047439594.1:c.724G>A, XM_047439592.1:c.733G>A, NP_003712.1:p.Glu243Lys, NP_604389.1:p.Glu220Lys, NP_001265656.1:p.Glu221Lys, NP_001265657.1:p.Glu220Lys, NP_001357164.1:p.Glu242Lys, NP_001357167.1:p.Glu268Lys, NP_001357166.1:p.Glu267Lys, NP_001357162.1:p.Glu243Lys, NP_001357165.1:p.Glu242Lys, NP_001357163.1:p.Glu221Lys, XP_005260191.1:p.Glu243Lys, XP_005260194.1:p.Glu242Lys, XP_047295546.1:p.Glu267Lys, XP_047295542.1:p.Glu268Lys, XP_047295545.1:p.Glu267Lys, XP_047295549.1:p.Glu245Lys, XP_047295544.1:p.Glu268Lys, XP_047295543.1:p.Glu268Lys, XP_047295547.1:p.Glu246Lys, XP_047295550.1:p.Glu242Lys, XP_047295548.1:p.Glu245Lys

Select item 144574052710.

rs1445740527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:19193994 (GRCh38)
19:19304803 (GRCh37)
Canonical SPDI:: NC_000019.10:19193993:C:G
Gene:: BORCS8-MEF2B (Varview), RFXANK (Varview), BORCS8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.19193994C>G, NC_000019.9:g.19304803C>G, NG_007432.1:g.6796C>G, NM_003721.4:c.48C>G, NM_003721.3:c.48C>G, NM_134440.3:c.48C>G, NM_134440.2:c.48C>G, NM_001278727.2:c.48C>G, NM_001278727.1:c.48C>G, NM_001278728.2:c.48C>G, NM_001278728.1:c.48C>G, NM_001370235.1:c.48C>G, NM_001370238.1:c.48C>G, NM_001370237.1:c.48C>G, NM_001370233.1:c.48C>G, NM_001370236.1:c.48C>G, NM_001370234.1:c.48C>G, XM_005260134.6:c.48C>G, XM_005260134.5:c.48C>G, XM_005260134.4:c.48C>G, XM_005260134.3:c.48C>G, XM_005260134.2:c.48C>G, XM_005260134.1:c.48C>G, XM_005260137.5:c.48C>G, XM_005260137.4:c.48C>G, XM_005260137.3:c.48C>G, XM_005260137.2:c.48C>G, XM_005260137.1:c.48C>G, XM_047439590.1:c.48C>G, XM_047439586.1:c.48C>G, XM_047439589.1:c.48C>G, XM_047439593.1:c.48C>G, XM_047439588.1:c.48C>G, XM_047439587.1:c.48C>G, XM_047439591.1:c.48C>G, XM_047439594.1:c.48C>G, XM_047439592.1:c.48C>G

Select item 143993560611.

rs1439935606 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:19193964 (GRCh38)
19:19304773 (GRCh37)
Canonical SPDI:: NC_000019.10:19193963:T:G
Gene:: BORCS8-MEF2B (Varview), RFXANK (Varview), BORCS8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.19193964T>G, NC_000019.9:g.19304773T>G, NG_007432.1:g.6766T>G, NM_003721.4:c.18T>G, NM_003721.3:c.18T>G, NM_134440.3:c.18T>G, NM_134440.2:c.18T>G, NM_001278727.2:c.18T>G, NM_001278727.1:c.18T>G, NM_001278728.2:c.18T>G, NM_001278728.1:c.18T>G, NM_001370235.1:c.18T>G, NM_001370238.1:c.18T>G, NM_001370237.1:c.18T>G, NM_001370233.1:c.18T>G, NM_001370236.1:c.18T>G, NM_001370234.1:c.18T>G, XM_005260134.6:c.18T>G, XM_005260134.5:c.18T>G, XM_005260134.4:c.18T>G, XM_005260134.3:c.18T>G, XM_005260134.2:c.18T>G, XM_005260134.1:c.18T>G, XM_005260137.5:c.18T>G, XM_005260137.4:c.18T>G, XM_005260137.3:c.18T>G, XM_005260137.2:c.18T>G, XM_005260137.1:c.18T>G, XM_047439590.1:c.18T>G, XM_047439586.1:c.18T>G, XM_047439589.1:c.18T>G, XM_047439593.1:c.18T>G, XM_047439588.1:c.18T>G, XM_047439587.1:c.18T>G, XM_047439591.1:c.18T>G, XM_047439594.1:c.18T>G, XM_047439592.1:c.18T>G

Select item 143941509812.

rs1439415098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:19197562 (GRCh38)
19:19308371 (GRCh37)
Canonical SPDI:: NC_000019.10:19197561:C:A
Gene:: RFXANK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000106/2 (TOMMO)
HGVS:: NC_000019.10:g.19197562C>A, NC_000019.9:g.19308371C>A, NG_007432.1:g.10364C>A, NM_003721.4:c.379C>A, NM_003721.3:c.379C>A, NM_134440.3:c.310C>A, NM_134440.2:c.310C>A, NM_001278727.2:c.313C>A, NM_001278727.1:c.313C>A, NM_001278728.2:c.310C>A, NM_001278728.1:c.310C>A, NM_001370235.1:c.376C>A, NM_001370238.1:c.379C>A, NM_001370237.1:c.376C>A, NM_001370233.1:c.379C>A, NM_001370236.1:c.376C>A, NM_001370234.1:c.313C>A, XM_005260134.6:c.379C>A, XM_005260134.5:c.379C>A, XM_005260134.4:c.379C>A, XM_005260134.3:c.379C>A, XM_005260134.2:c.379C>A, XM_005260134.1:c.379C>A, XM_005260137.5:c.376C>A, XM_005260137.4:c.376C>A, XM_005260137.3:c.376C>A, XM_005260137.2:c.376C>A, XM_005260137.1:c.376C>A, XM_047439590.1:c.376C>A, XM_047439586.1:c.379C>A, XM_047439589.1:c.376C>A, XM_047439593.1:c.310C>A, XM_047439588.1:c.379C>A, XM_047439587.1:c.379C>A, XM_047439591.1:c.313C>A, XM_047439594.1:c.376C>A, XM_047439592.1:c.310C>A, NP_003712.1:p.Pro127Thr, NP_604389.1:p.Pro104Thr, NP_001265656.1:p.Pro105Thr, NP_001265657.1:p.Pro104Thr, NP_001357164.1:p.Pro126Thr, NP_001357167.1:p.Pro127Thr, NP_001357166.1:p.Pro126Thr, NP_001357162.1:p.Pro127Thr, NP_001357165.1:p.Pro126Thr, NP_001357163.1:p.Pro105Thr, XP_005260191.1:p.Pro127Thr, XP_005260194.1:p.Pro126Thr, XP_047295546.1:p.Pro126Thr, XP_047295542.1:p.Pro127Thr, XP_047295545.1:p.Pro126Thr, XP_047295549.1:p.Pro104Thr, XP_047295544.1:p.Pro127Thr, XP_047295543.1:p.Pro127Thr, XP_047295547.1:p.Pro105Thr, XP_047295550.1:p.Pro126Thr, XP_047295548.1:p.Pro104Thr

Select item 143745082513.

rs1437450825 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTAC [Show Flanks]
Chromosome:: 19:19193952 (GRCh38)
19:19304762 (GRCh37)
Canonical SPDI:: NC_000019.10:19193952:CTTAC:CTTACTTAC
Gene:: BORCS8-MEF2B (Varview), RFXANK (Varview), BORCS8 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: CTTACTTAC=0./0 (ALFA)
CTTA=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.19193954_19193957dup, NC_000019.9:g.19304763_19304766dup, NG_007432.1:g.6756_6759dup, NM_003721.4:c.8_11dup, NM_003721.3:c.8_11dup, NM_134440.3:c.8_11dup, NM_134440.2:c.8_11dup, NM_001278727.2:c.8_11dup, NM_001278727.1:c.8_11dup, NM_001278728.2:c.8_11dup, NM_001278728.1:c.8_11dup, NM_001370235.1:c.8_11dup, NM_001370238.1:c.8_11dup, NM_001370237.1:c.8_11dup, NM_001370233.1:c.8_11dup, NM_001370236.1:c.8_11dup, NM_001370234.1:c.8_11dup, XM_005260134.6:c.8_11dup, XM_005260134.5:c.8_11dup, XM_005260134.4:c.8_11dup, XM_005260134.3:c.8_11dup, XM_005260134.2:c.8_11dup, XM_005260134.1:c.8_11dup, XM_005260137.5:c.8_11dup, XM_005260137.4:c.8_11dup, XM_005260137.3:c.8_11dup, XM_005260137.2:c.8_11dup, XM_005260137.1:c.8_11dup, XM_047439590.1:c.8_11dup, XM_047439586.1:c.8_11dup, XM_047439589.1:c.8_11dup, XM_047439593.1:c.8_11dup, XM_047439588.1:c.8_11dup, XM_047439587.1:c.8_11dup, XM_047439591.1:c.8_11dup, XM_047439594.1:c.8_11dup, XM_047439592.1:c.8_11dup, NP_003712.1:p.Gln5fs, NP_604389.1:p.Gln5fs, NP_001265656.1:p.Gln5fs, NP_001265657.1:p.Gln5fs, NP_001357164.1:p.Gln5fs, NP_001357167.1:p.Gln5fs, NP_001357166.1:p.Gln5fs, NP_001357162.1:p.Gln5fs, NP_001357165.1:p.Gln5fs, NP_001357163.1:p.Gln5fs, XP_005260191.1:p.Gln5fs, XP_005260194.1:p.Gln5fs, XP_047295546.1:p.Gln5fs, XP_047295542.1:p.Gln5fs, XP_047295545.1:p.Gln5fs, XP_047295549.1:p.Gln5fs, XP_047295544.1:p.Gln5fs, XP_047295543.1:p.Gln5fs, XP_047295547.1:p.Gln5fs, XP_047295550.1:p.Gln5fs, XP_047295548.1:p.Gln5fs

Select item 143173026114.

rs1431730261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:19194119 (GRCh38)
19:19304928 (GRCh37)
Canonical SPDI:: NC_000019.10:19194118:T:C
Gene:: BORCS8-MEF2B (Varview), RFXANK (Varview), BORCS8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.19194119T>C, NC_000019.9:g.19304928T>C, NG_007432.1:g.6921T>C, NM_003721.4:c.173T>C, NM_003721.3:c.173T>C, NM_134440.3:c.173T>C, NM_134440.2:c.173T>C, NM_001278727.2:c.173T>C, NM_001278727.1:c.173T>C, NM_001278728.2:c.173T>C, NM_001278728.1:c.173T>C, NM_001370235.1:c.173T>C, NM_001370238.1:c.173T>C, NM_001370237.1:c.173T>C, NM_001370233.1:c.173T>C, NM_001370236.1:c.173T>C, NM_001370234.1:c.173T>C, XM_005260134.6:c.173T>C, XM_005260134.5:c.173T>C, XM_005260134.4:c.173T>C, XM_005260134.3:c.173T>C, XM_005260134.2:c.173T>C, XM_005260134.1:c.173T>C, XM_005260137.5:c.173T>C, XM_005260137.4:c.173T>C, XM_005260137.3:c.173T>C, XM_005260137.2:c.173T>C, XM_005260137.1:c.173T>C, XM_047439590.1:c.173T>C, XM_047439586.1:c.173T>C, XM_047439589.1:c.173T>C, XM_047439593.1:c.173T>C, XM_047439588.1:c.173T>C, XM_047439587.1:c.173T>C, XM_047439591.1:c.173T>C, XM_047439594.1:c.173T>C, XM_047439592.1:c.173T>C, NP_003712.1:p.Val58Ala, NP_604389.1:p.Val58Ala, NP_001265656.1:p.Val58Ala, NP_001265657.1:p.Val58Ala, NP_001357164.1:p.Val58Ala, NP_001357167.1:p.Val58Ala, NP_001357166.1:p.Val58Ala, NP_001357162.1:p.Val58Ala, NP_001357165.1:p.Val58Ala, NP_001357163.1:p.Val58Ala, XP_005260191.1:p.Val58Ala, XP_005260194.1:p.Val58Ala, XP_047295546.1:p.Val58Ala, XP_047295542.1:p.Val58Ala, XP_047295545.1:p.Val58Ala, XP_047295549.1:p.Val58Ala, XP_047295544.1:p.Val58Ala, XP_047295543.1:p.Val58Ala, XP_047295547.1:p.Val58Ala, XP_047295550.1:p.Val58Ala, XP_047295548.1:p.Val58Ala

Select item 143079799415.

rs1430797994 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:19197594 (GRCh38)
19:19308403 (GRCh37)
Canonical SPDI:: NC_000019.10:19197593:T:C
Gene:: RFXANK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.19197594T>C, NC_000019.9:g.19308403T>C, NG_007432.1:g.10396T>C, NM_003721.4:c.411T>C, NM_003721.3:c.411T>C, NM_134440.3:c.342T>C, NM_134440.2:c.342T>C, NM_001278727.2:c.345T>C, NM_001278727.1:c.345T>C, NM_001278728.2:c.342T>C, NM_001278728.1:c.342T>C, NM_001370235.1:c.408T>C, NM_001370238.1:c.411T>C, NM_001370237.1:c.408T>C, NM_001370233.1:c.411T>C, NM_001370236.1:c.408T>C, NM_001370234.1:c.345T>C, XM_005260134.6:c.411T>C, XM_005260134.5:c.411T>C, XM_005260134.4:c.411T>C, XM_005260134.3:c.411T>C, XM_005260134.2:c.411T>C, XM_005260134.1:c.411T>C, XM_005260137.5:c.408T>C, XM_005260137.4:c.408T>C, XM_005260137.3:c.408T>C, XM_005260137.2:c.408T>C, XM_005260137.1:c.408T>C, XM_047439590.1:c.408T>C, XM_047439586.1:c.411T>C, XM_047439589.1:c.408T>C, XM_047439593.1:c.342T>C, XM_047439588.1:c.411T>C, XM_047439587.1:c.411T>C, XM_047439591.1:c.345T>C, XM_047439594.1:c.408T>C, XM_047439592.1:c.342T>C

Select item 142806341816.

rs1428063418 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:19198184 (GRCh38)
19:19308993 (GRCh37)
Canonical SPDI:: NC_000019.10:19198183:T:G
Gene:: RFXANK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.19198184T>G, NC_000019.9:g.19308993T>G, NG_007432.1:g.10986T>G, NM_003721.4:c.516T>G, NM_003721.3:c.516T>G, NM_134440.3:c.447T>G, NM_134440.2:c.447T>G, NM_001278727.2:c.450T>G, NM_001278727.1:c.450T>G, NM_001278728.2:c.447T>G, NM_001278728.1:c.447T>G, NM_001370235.1:c.513T>G, NM_001370238.1:c.516T>G, NM_001370237.1:c.513T>G, NM_001370233.1:c.516T>G, NM_001370236.1:c.513T>G, NM_001370234.1:c.450T>G, XM_005260134.6:c.516T>G, XM_005260134.5:c.516T>G, XM_005260134.4:c.516T>G, XM_005260134.3:c.516T>G, XM_005260134.2:c.516T>G, XM_005260134.1:c.516T>G, XM_005260137.5:c.513T>G, XM_005260137.4:c.513T>G, XM_005260137.3:c.513T>G, XM_005260137.2:c.513T>G, XM_005260137.1:c.513T>G, XM_047439590.1:c.513T>G, XM_047439586.1:c.516T>G, XM_047439589.1:c.513T>G, XM_047439593.1:c.447T>G, XM_047439588.1:c.516T>G, XM_047439587.1:c.516T>G, XM_047439591.1:c.450T>G, XM_047439594.1:c.513T>G, XM_047439592.1:c.447T>G, NP_003712.1:p.Ile172Met, NP_604389.1:p.Ile149Met, NP_001265656.1:p.Ile150Met, NP_001265657.1:p.Ile149Met, NP_001357164.1:p.Ile171Met, NP_001357167.1:p.Ile172Met, NP_001357166.1:p.Ile171Met, NP_001357162.1:p.Ile172Met, NP_001357165.1:p.Ile171Met, NP_001357163.1:p.Ile150Met, XP_005260191.1:p.Ile172Met, XP_005260194.1:p.Ile171Met, XP_047295546.1:p.Ile171Met, XP_047295542.1:p.Ile172Met, XP_047295545.1:p.Ile171Met, XP_047295549.1:p.Ile149Met, XP_047295544.1:p.Ile172Met, XP_047295543.1:p.Ile172Met, XP_047295547.1:p.Ile150Met, XP_047295550.1:p.Ile171Met, XP_047295548.1:p.Ile149Met

Select item 142583539017.

rs1425835390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:19194001 (GRCh38)
19:19304810 (GRCh37)
Canonical SPDI:: NC_000019.10:19194000:T:G
Gene:: BORCS8-MEF2B (Varview), RFXANK (Varview), BORCS8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.19194001T>G, NC_000019.9:g.19304810T>G, NG_007432.1:g.6803T>G, NM_003721.4:c.55T>G, NM_003721.3:c.55T>G, NM_134440.3:c.55T>G, NM_134440.2:c.55T>G, NM_001278727.2:c.55T>G, NM_001278727.1:c.55T>G, NM_001278728.2:c.55T>G, NM_001278728.1:c.55T>G, NM_001370235.1:c.55T>G, NM_001370238.1:c.55T>G, NM_001370237.1:c.55T>G, NM_001370233.1:c.55T>G, NM_001370236.1:c.55T>G, NM_001370234.1:c.55T>G, XM_005260134.6:c.55T>G, XM_005260134.5:c.55T>G, XM_005260134.4:c.55T>G, XM_005260134.3:c.55T>G, XM_005260134.2:c.55T>G, XM_005260134.1:c.55T>G, XM_005260137.5:c.55T>G, XM_005260137.4:c.55T>G, XM_005260137.3:c.55T>G, XM_005260137.2:c.55T>G, XM_005260137.1:c.55T>G, XM_047439590.1:c.55T>G, XM_047439586.1:c.55T>G, XM_047439589.1:c.55T>G, XM_047439593.1:c.55T>G, XM_047439588.1:c.55T>G, XM_047439587.1:c.55T>G, XM_047439591.1:c.55T>G, XM_047439594.1:c.55T>G, XM_047439592.1:c.55T>G, NP_003712.1:p.Ser19Ala, NP_604389.1:p.Ser19Ala, NP_001265656.1:p.Ser19Ala, NP_001265657.1:p.Ser19Ala, NP_001357164.1:p.Ser19Ala, NP_001357167.1:p.Ser19Ala, NP_001357166.1:p.Ser19Ala, NP_001357162.1:p.Ser19Ala, NP_001357165.1:p.Ser19Ala, NP_001357163.1:p.Ser19Ala, XP_005260191.1:p.Ser19Ala, XP_005260194.1:p.Ser19Ala, XP_047295546.1:p.Ser19Ala, XP_047295542.1:p.Ser19Ala, XP_047295545.1:p.Ser19Ala, XP_047295549.1:p.Ser19Ala, XP_047295544.1:p.Ser19Ala, XP_047295543.1:p.Ser19Ala, XP_047295547.1:p.Ser19Ala, XP_047295550.1:p.Ser19Ala, XP_047295548.1:p.Ser19Ala

Select item 142487685818.

rs1424876858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:19198173 (GRCh38)
19:19308982 (GRCh37)
Canonical SPDI:: NC_000019.10:19198172:T:C
Gene:: RFXANK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.19198173T>C, NC_000019.9:g.19308982T>C, NG_007432.1:g.10975T>C, NM_003721.4:c.505T>C, NM_003721.3:c.505T>C, NM_134440.3:c.436T>C, NM_134440.2:c.436T>C, NM_001278727.2:c.439T>C, NM_001278727.1:c.439T>C, NM_001278728.2:c.436T>C, NM_001278728.1:c.436T>C, NM_001370235.1:c.502T>C, NM_001370238.1:c.505T>C, NM_001370237.1:c.502T>C, NM_001370233.1:c.505T>C, NM_001370236.1:c.502T>C, NM_001370234.1:c.439T>C, XM_005260134.6:c.505T>C, XM_005260134.5:c.505T>C, XM_005260134.4:c.505T>C, XM_005260134.3:c.505T>C, XM_005260134.2:c.505T>C, XM_005260134.1:c.505T>C, XM_005260137.5:c.502T>C, XM_005260137.4:c.502T>C, XM_005260137.3:c.502T>C, XM_005260137.2:c.502T>C, XM_005260137.1:c.502T>C, XM_047439590.1:c.502T>C, XM_047439586.1:c.505T>C, XM_047439589.1:c.502T>C, XM_047439593.1:c.436T>C, XM_047439588.1:c.505T>C, XM_047439587.1:c.505T>C, XM_047439591.1:c.439T>C, XM_047439594.1:c.502T>C, XM_047439592.1:c.436T>C, NP_003712.1:p.Tyr169His, NP_604389.1:p.Tyr146His, NP_001265656.1:p.Tyr147His, NP_001265657.1:p.Tyr146His, NP_001357164.1:p.Tyr168His, NP_001357167.1:p.Tyr169His, NP_001357166.1:p.Tyr168His, NP_001357162.1:p.Tyr169His, NP_001357165.1:p.Tyr168His, NP_001357163.1:p.Tyr147His, XP_005260191.1:p.Tyr169His, XP_005260194.1:p.Tyr168His, XP_047295546.1:p.Tyr168His, XP_047295542.1:p.Tyr169His, XP_047295545.1:p.Tyr168His, XP_047295549.1:p.Tyr146His, XP_047295544.1:p.Tyr169His, XP_047295543.1:p.Tyr169His, XP_047295547.1:p.Tyr147His, XP_047295550.1:p.Tyr168His, XP_047295548.1:p.Tyr146His

Select item 140707415119.

rs1407074151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:19199200 (GRCh38)
19:19310009 (GRCh37)
Canonical SPDI:: NC_000019.10:19199199:G:A
Gene:: RFXANK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.19199200G>A, NC_000019.9:g.19310009G>A, NG_007432.1:g.12002G>A, NM_003721.4:c.678G>A, NM_003721.3:c.678G>A, NM_134440.3:c.609G>A, NM_134440.2:c.609G>A, NM_001278727.2:c.612G>A, NM_001278727.1:c.612G>A, NM_001278728.2:c.609G>A, NM_001278728.1:c.609G>A, NM_001370235.1:c.675G>A, NM_001370238.1:c.678G>A, NM_001370237.1:c.675G>A, NM_001370233.1:c.678G>A, NM_001370236.1:c.675G>A, NM_001370234.1:c.612G>A, XM_005260134.6:c.678G>A, XM_005260134.5:c.678G>A, XM_005260134.4:c.678G>A, XM_005260134.3:c.678G>A, XM_005260134.2:c.678G>A, XM_005260134.1:c.678G>A, XM_005260137.5:c.675G>A, XM_005260137.4:c.675G>A, XM_005260137.3:c.675G>A, XM_005260137.2:c.675G>A, XM_005260137.1:c.675G>A, XM_047439590.1:c.675G>A, XM_047439586.1:c.678G>A, XM_047439589.1:c.675G>A, XM_047439593.1:c.609G>A, XM_047439588.1:c.678G>A, XM_047439587.1:c.678G>A, XM_047439591.1:c.612G>A, XM_047439594.1:c.675G>A, XM_047439592.1:c.609G>A

Select item 140525653720.

rs1405256537 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:19198722 (GRCh38)
19:19309531 (GRCh37)
Canonical SPDI:: NC_000019.10:19198721:GGG:GG
Gene:: RFXANK (Varview)
Functional Consequence:: splice_donor_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.19198724del, NC_000019.9:g.19309533del, NG_007432.1:g.11526del

<< First< Prev

Page of 13

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 19924156) (259)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...