SNP Links for Protein (Select 4557843) - SNP

Select item 14904731481.

rs1490473148 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:151345140 (GRCh38)
1:151317617 (GRCh37)
Canonical SPDI:: NC_000001.11:151345140:AA:AAA
Gene:: RFX5 (Varview), RFX5-AS1 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.151345142dup, NC_000001.10:g.151317618dup, NG_007576.1:g.7153dup, NM_000449.4:c.198dup, NM_000449.3:c.198dup, NM_001025603.2:c.198dup, NM_001025603.1:c.198dup, NM_001379416.1:c.198dup, NM_001379415.1:c.198dup, NM_001379414.1:c.198dup, NM_001379413.1:c.198dup, NM_001379417.1:c.198dup, NM_001379412.1:c.198dup, NM_001379418.1:c.198dup, NM_001379420.1:c.198dup, NM_001379419.1:c.198dup, XM_047426951.1:c.198dup, NP_000440.1:p.Gln67fs, NP_001020774.1:p.Gln67fs, NP_001366345.1:p.Gln67fs, NP_001366344.1:p.Gln67fs, NP_001366343.1:p.Gln67fs, NP_001366342.1:p.Gln67fs, NP_001366346.1:p.Gln67fs, NP_001366341.1:p.Gln67fs, NP_001366347.1:p.Gln67fs, NP_001366349.1:p.Gln67fs, NP_001366348.1:p.Gln67fs, XP_047282907.1:p.Gln67fs

Select item 14904568522.

rs1490456852 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151343814 (GRCh38)
1:151316290 (GRCh37)
Canonical SPDI:: NC_000001.11:151343813:G:A
Gene:: RFX5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.151343814G>A, NC_000001.10:g.151316290G>A, NG_007576.1:g.8480C>T, NM_000449.4:c.624C>T, NM_000449.3:c.624C>T, NM_001025603.2:c.624C>T, NM_001025603.1:c.624C>T, NM_001379416.1:c.624C>T, NM_001379415.1:c.624C>T, NM_001379414.1:c.624C>T, NM_001379413.1:c.624C>T, NM_001379417.1:c.624C>T, NM_001379412.1:c.624C>T, NM_001379418.1:c.624C>T, NM_001379420.1:c.504C>T, NM_001379419.1:c.504C>T, XM_024448791.2:c.111C>T, XM_024448791.1:c.111C>T, XM_047426951.1:c.624C>T

Select item 14899674973.

rs1489967497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151344445 (GRCh38)
1:151316921 (GRCh37)
Canonical SPDI:: NC_000001.11:151344444:G:A
Gene:: RFX5 (Varview)
Functional Consequence:: stop_gained,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.151344445G>A, NC_000001.10:g.151316921G>A, NG_007576.1:g.7849C>T, NM_000449.4:c.445C>T, NM_000449.3:c.445C>T, NM_001025603.2:c.445C>T, NM_001025603.1:c.445C>T, NM_001379416.1:c.445C>T, NM_001379415.1:c.445C>T, NM_001379414.1:c.445C>T, NM_001379413.1:c.445C>T, NM_001379417.1:c.445C>T, NM_001379412.1:c.445C>T, NM_001379418.1:c.445C>T, NM_001379420.1:c.325C>T, NM_001379419.1:c.325C>T, XM_024448791.2:c.-69C>T, XM_024448791.1:c.-69C>T, XM_047426951.1:c.445C>T, NP_000440.1:p.Arg149Ter, NP_001020774.1:p.Arg149Ter, NP_001366345.1:p.Arg149Ter, NP_001366344.1:p.Arg149Ter, NP_001366343.1:p.Arg149Ter, NP_001366342.1:p.Arg149Ter, NP_001366346.1:p.Arg149Ter, NP_001366341.1:p.Arg149Ter, NP_001366347.1:p.Arg149Ter, NP_001366349.1:p.Arg109Ter, NP_001366348.1:p.Arg109Ter, XP_047282907.1:p.Arg149Ter

Select item 14891541654.

rs1489154165 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:151342954 (GRCh38)
1:151315430 (GRCh37)
Canonical SPDI:: NC_000001.11:151342953:T:C
Gene:: RFX5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151342954T>C, NC_000001.10:g.151315430T>C, NG_007576.1:g.9340A>G, NM_000449.4:c.1083A>G, NM_000449.3:c.1083A>G, NM_001025603.2:c.1083A>G, NM_001025603.1:c.1083A>G, NM_001379416.1:c.1083A>G, NM_001379415.1:c.1083A>G, NM_001379414.1:c.1083A>G, NM_001379413.1:c.1083A>G, NM_001379417.1:c.1083A>G, NM_001379412.1:c.1083A>G, NM_001379418.1:c.1083A>G, NM_001379420.1:c.963A>G, NM_001379419.1:c.963A>G, XM_024448791.2:c.570A>G, XM_024448791.1:c.570A>G, XM_047426951.1:c.1083A>G

Select item 14886644255.

rs1488664425 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:151342882 (GRCh38)
1:151315358 (GRCh37)
Canonical SPDI:: NC_000001.11:151342881:T:C
Gene:: RFX5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151342882T>C, NC_000001.10:g.151315358T>C, NG_007576.1:g.9412A>G, NM_000449.4:c.1155A>G, NM_000449.3:c.1155A>G, NM_001025603.2:c.1155A>G, NM_001025603.1:c.1155A>G, NM_001379416.1:c.1155A>G, NM_001379415.1:c.1155A>G, NM_001379414.1:c.1155A>G, NM_001379413.1:c.1155A>G, NM_001379417.1:c.1155A>G, NM_001379412.1:c.1155A>G, NM_001379418.1:c.1155A>G, NM_001379420.1:c.1035A>G, NM_001379419.1:c.1035A>G, XM_024448791.2:c.642A>G, XM_024448791.1:c.642A>G, XM_047426951.1:c.1155A>G

Select item 14879777156.

rs1487977715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151343725 (GRCh38)
1:151316201 (GRCh37)
Canonical SPDI:: NC_000001.11:151343724:G:A
Gene:: RFX5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151343725G>A, NC_000001.10:g.151316201G>A, NG_007576.1:g.8569C>T, NM_000449.4:c.713C>T, NM_000449.3:c.713C>T, NM_001025603.2:c.713C>T, NM_001025603.1:c.713C>T, NM_001379416.1:c.713C>T, NM_001379415.1:c.713C>T, NM_001379414.1:c.713C>T, NM_001379413.1:c.713C>T, NM_001379417.1:c.713C>T, NM_001379412.1:c.713C>T, NM_001379418.1:c.713C>T, NM_001379420.1:c.593C>T, NM_001379419.1:c.593C>T, XM_024448791.2:c.200C>T, XM_024448791.1:c.200C>T, XM_047426951.1:c.713C>T, NP_000440.1:p.Ala238Val, NP_001020774.1:p.Ala238Val, NP_001366345.1:p.Ala238Val, NP_001366344.1:p.Ala238Val, NP_001366343.1:p.Ala238Val, NP_001366342.1:p.Ala238Val, NP_001366346.1:p.Ala238Val, NP_001366341.1:p.Ala238Val, NP_001366347.1:p.Ala238Val, NP_001366349.1:p.Ala198Val, NP_001366348.1:p.Ala198Val, XP_024304559.1:p.Ala67Val, XP_047282907.1:p.Ala238Val

Select item 14877314397.

rs1487731439 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151342805 (GRCh38)
1:151315281 (GRCh37)
Canonical SPDI:: NC_000001.11:151342804:C:T
Gene:: RFX5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.151342805C>T, NC_000001.10:g.151315281C>T, NG_007576.1:g.9489G>A, NM_000449.4:c.1232G>A, NM_000449.3:c.1232G>A, NM_001025603.2:c.1232G>A, NM_001025603.1:c.1232G>A, NM_001379416.1:c.1232G>A, NM_001379415.1:c.1232G>A, NM_001379414.1:c.1232G>A, NM_001379413.1:c.1232G>A, NM_001379417.1:c.1232G>A, NM_001379412.1:c.1232G>A, NM_001379418.1:c.1232G>A, NM_001379420.1:c.1112G>A, NM_001379419.1:c.1112G>A, XM_024448791.2:c.719G>A, XM_024448791.1:c.719G>A, XM_047426951.1:c.1232G>A, NP_000440.1:p.Gly411Asp, NP_001020774.1:p.Gly411Asp, NP_001366345.1:p.Gly411Asp, NP_001366344.1:p.Gly411Asp, NP_001366343.1:p.Gly411Asp, NP_001366342.1:p.Gly411Asp, NP_001366346.1:p.Gly411Asp, NP_001366341.1:p.Gly411Asp, NP_001366347.1:p.Gly411Asp, NP_001366349.1:p.Gly371Asp, NP_001366348.1:p.Gly371Asp, XP_024304559.1:p.Gly240Asp, XP_047282907.1:p.Gly411Asp

Select item 14875469188.

rs1487546918 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151342524 (GRCh38)
1:151315000 (GRCh37)
Canonical SPDI:: NC_000001.11:151342523:A:G
Gene:: RFX5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151342524A>G, NC_000001.10:g.151315000A>G, NG_007576.1:g.9770T>C, NM_000449.4:c.1513T>C, NM_000449.3:c.1513T>C, NM_001025603.2:c.1513T>C, NM_001025603.1:c.1513T>C, NM_001379416.1:c.1513T>C, NM_001379415.1:c.1513T>C, NM_001379414.1:c.1513T>C, NM_001379413.1:c.1513T>C, NM_001379417.1:c.1513T>C, NM_001379412.1:c.1513T>C, NM_001379418.1:c.1513T>C, NM_001379420.1:c.1393T>C, NM_001379419.1:c.1393T>C, XM_024448791.2:c.1000T>C, XM_024448791.1:c.1000T>C, XM_047426951.1:c.1513T>C, NP_000440.1:p.Ser505Pro, NP_001020774.1:p.Ser505Pro, NP_001366345.1:p.Ser505Pro, NP_001366344.1:p.Ser505Pro, NP_001366343.1:p.Ser505Pro, NP_001366342.1:p.Ser505Pro, NP_001366346.1:p.Ser505Pro, NP_001366341.1:p.Ser505Pro, NP_001366347.1:p.Ser505Pro, NP_001366349.1:p.Ser465Pro, NP_001366348.1:p.Ser465Pro, XP_024304559.1:p.Ser334Pro, XP_047282907.1:p.Ser505Pro

Select item 14867748999.

rs1486774899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151344505 (GRCh38)
1:151316981 (GRCh37)
Canonical SPDI:: NC_000001.11:151344504:G:A
Gene:: RFX5 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.151344505G>A, NC_000001.10:g.151316981G>A, NG_007576.1:g.7789C>T, NM_000449.4:c.385C>T, NM_000449.3:c.385C>T, NM_001025603.2:c.385C>T, NM_001025603.1:c.385C>T, NM_001379416.1:c.385C>T, NM_001379415.1:c.385C>T, NM_001379414.1:c.385C>T, NM_001379413.1:c.385C>T, NM_001379417.1:c.385C>T, NM_001379412.1:c.385C>T, NM_001379418.1:c.385C>T, NM_001379420.1:c.265C>T, NM_001379419.1:c.265C>T, XM_024448791.2:c.-129C>T, XM_024448791.1:c.-129C>T, XM_047426951.1:c.385C>T, NP_000440.1:p.Pro129Ser, NP_001020774.1:p.Pro129Ser, NP_001366345.1:p.Pro129Ser, NP_001366344.1:p.Pro129Ser, NP_001366343.1:p.Pro129Ser, NP_001366342.1:p.Pro129Ser, NP_001366346.1:p.Pro129Ser, NP_001366341.1:p.Pro129Ser, NP_001366347.1:p.Pro129Ser, NP_001366349.1:p.Pro89Ser, NP_001366348.1:p.Pro89Ser, XP_047282907.1:p.Pro129Ser

Select item 148483690910.

rs1484836909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:151344528 (GRCh38)
1:151317004 (GRCh37)
Canonical SPDI:: NC_000001.11:151344527:C:G
Gene:: RFX5 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.151344528C>G, NC_000001.10:g.151317004C>G, NG_007576.1:g.7766G>C, NM_000449.4:c.362G>C, NM_000449.3:c.362G>C, NM_001025603.2:c.362G>C, NM_001025603.1:c.362G>C, NM_001379416.1:c.362G>C, NM_001379415.1:c.362G>C, NM_001379414.1:c.362G>C, NM_001379413.1:c.362G>C, NM_001379417.1:c.362G>C, NM_001379412.1:c.362G>C, NM_001379418.1:c.362G>C, NM_001379420.1:c.242G>C, NM_001379419.1:c.242G>C, XM_024448791.2:c.-152G>C, XM_024448791.1:c.-152G>C, XM_047426951.1:c.362G>C, NP_000440.1:p.Cys121Ser, NP_001020774.1:p.Cys121Ser, NP_001366345.1:p.Cys121Ser, NP_001366344.1:p.Cys121Ser, NP_001366343.1:p.Cys121Ser, NP_001366342.1:p.Cys121Ser, NP_001366346.1:p.Cys121Ser, NP_001366341.1:p.Cys121Ser, NP_001366347.1:p.Cys121Ser, NP_001366349.1:p.Cys81Ser, NP_001366348.1:p.Cys81Ser, XP_047282907.1:p.Cys121Ser

Select item 148324061611.

rs1483240616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:151342671 (GRCh38)
1:151315147 (GRCh37)
Canonical SPDI:: NC_000001.11:151342670:C:G
Gene:: RFX5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.151342671C>G, NC_000001.10:g.151315147C>G, NG_007576.1:g.9623G>C, NM_000449.4:c.1366G>C, NM_000449.3:c.1366G>C, NM_001025603.2:c.1366G>C, NM_001025603.1:c.1366G>C, NM_001379416.1:c.1366G>C, NM_001379415.1:c.1366G>C, NM_001379414.1:c.1366G>C, NM_001379413.1:c.1366G>C, NM_001379417.1:c.1366G>C, NM_001379412.1:c.1366G>C, NM_001379418.1:c.1366G>C, NM_001379420.1:c.1246G>C, NM_001379419.1:c.1246G>C, XM_024448791.2:c.853G>C, XM_024448791.1:c.853G>C, XM_047426951.1:c.1366G>C, NP_000440.1:p.Glu456Gln, NP_001020774.1:p.Glu456Gln, NP_001366345.1:p.Glu456Gln, NP_001366344.1:p.Glu456Gln, NP_001366343.1:p.Glu456Gln, NP_001366342.1:p.Glu456Gln, NP_001366346.1:p.Glu456Gln, NP_001366341.1:p.Glu456Gln, NP_001366347.1:p.Glu456Gln, NP_001366349.1:p.Glu416Gln, NP_001366348.1:p.Glu416Gln, XP_024304559.1:p.Glu285Gln, XP_047282907.1:p.Glu456Gln

Select item 148189820212.

rs1481898202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151342825 (GRCh38)
1:151315301 (GRCh37)
Canonical SPDI:: NC_000001.11:151342824:C:T
Gene:: RFX5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.151342825C>T, NC_000001.10:g.151315301C>T, NG_007576.1:g.9469G>A, NM_000449.4:c.1212G>A, NM_000449.3:c.1212G>A, NM_001025603.2:c.1212G>A, NM_001025603.1:c.1212G>A, NM_001379416.1:c.1212G>A, NM_001379415.1:c.1212G>A, NM_001379414.1:c.1212G>A, NM_001379413.1:c.1212G>A, NM_001379417.1:c.1212G>A, NM_001379412.1:c.1212G>A, NM_001379418.1:c.1212G>A, NM_001379420.1:c.1092G>A, NM_001379419.1:c.1092G>A, XM_024448791.2:c.699G>A, XM_024448791.1:c.699G>A, XM_047426951.1:c.1212G>A

Select item 148086836213.

rs1480868362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:151342424 (GRCh38)
1:151314900 (GRCh37)
Canonical SPDI:: NC_000001.11:151342423:G:C
Gene:: RFX5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.151342424G>C, NC_000001.10:g.151314900G>C, NG_007576.1:g.9870C>G, NM_000449.4:c.1613C>G, NM_000449.3:c.1613C>G, NM_001025603.2:c.1613C>G, NM_001025603.1:c.1613C>G, NM_001379416.1:c.1613C>G, NM_001379415.1:c.1613C>G, NM_001379414.1:c.1613C>G, NM_001379413.1:c.1613C>G, NM_001379417.1:c.1613C>G, NM_001379412.1:c.1613C>G, NM_001379418.1:c.1613C>G, NM_001379420.1:c.1493C>G, NM_001379419.1:c.1493C>G, XM_024448791.2:c.1100C>G, XM_024448791.1:c.1100C>G, XM_047426951.1:c.1613C>G, NP_000440.1:p.Thr538Ser, NP_001020774.1:p.Thr538Ser, NP_001366345.1:p.Thr538Ser, NP_001366344.1:p.Thr538Ser, NP_001366343.1:p.Thr538Ser, NP_001366342.1:p.Thr538Ser, NP_001366346.1:p.Thr538Ser, NP_001366341.1:p.Thr538Ser, NP_001366347.1:p.Thr538Ser, NP_001366349.1:p.Thr498Ser, NP_001366348.1:p.Thr498Ser, XP_024304559.1:p.Thr367Ser, XP_047282907.1:p.Thr538Ser

Select item 147875872114.

rs1478758721 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:151342887 (GRCh38)
1:151315363 (GRCh37)
Canonical SPDI:: NC_000001.11:151342886:T:A
Gene:: RFX5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151342887T>A, NC_000001.10:g.151315363T>A, NG_007576.1:g.9407A>T, NM_000449.4:c.1150A>T, NM_000449.3:c.1150A>T, NM_001025603.2:c.1150A>T, NM_001025603.1:c.1150A>T, NM_001379416.1:c.1150A>T, NM_001379415.1:c.1150A>T, NM_001379414.1:c.1150A>T, NM_001379413.1:c.1150A>T, NM_001379417.1:c.1150A>T, NM_001379412.1:c.1150A>T, NM_001379418.1:c.1150A>T, NM_001379420.1:c.1030A>T, NM_001379419.1:c.1030A>T, XM_024448791.2:c.637A>T, XM_024448791.1:c.637A>T, XM_047426951.1:c.1150A>T, NP_000440.1:p.Ile384Phe, NP_001020774.1:p.Ile384Phe, NP_001366345.1:p.Ile384Phe, NP_001366344.1:p.Ile384Phe, NP_001366343.1:p.Ile384Phe, NP_001366342.1:p.Ile384Phe, NP_001366346.1:p.Ile384Phe, NP_001366341.1:p.Ile384Phe, NP_001366347.1:p.Ile384Phe, NP_001366349.1:p.Ile344Phe, NP_001366348.1:p.Ile344Phe, XP_024304559.1:p.Ile213Phe, XP_047282907.1:p.Ile384Phe

Select item 147833050315.

rs1478330503 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:151344201 (GRCh38)
1:151316677 (GRCh37)
Canonical SPDI:: NC_000001.11:151344200:T:G
Gene:: RFX5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.151344201T>G, NC_000001.10:g.151316677T>G, NG_007576.1:g.8093A>C, NM_000449.4:c.551A>C, NM_000449.3:c.551A>C, NM_001025603.2:c.551A>C, NM_001025603.1:c.551A>C, NM_001379416.1:c.551A>C, NM_001379415.1:c.551A>C, NM_001379414.1:c.551A>C, NM_001379413.1:c.551A>C, NM_001379417.1:c.551A>C, NM_001379412.1:c.551A>C, NM_001379418.1:c.551A>C, NM_001379420.1:c.431A>C, NM_001379419.1:c.431A>C, XM_024448791.2:c.38A>C, XM_024448791.1:c.38A>C, XM_047426951.1:c.551A>C, NP_000440.1:p.Glu184Ala, NP_001020774.1:p.Glu184Ala, NP_001366345.1:p.Glu184Ala, NP_001366344.1:p.Glu184Ala, NP_001366343.1:p.Glu184Ala, NP_001366342.1:p.Glu184Ala, NP_001366346.1:p.Glu184Ala, NP_001366341.1:p.Glu184Ala, NP_001366347.1:p.Glu184Ala, NP_001366349.1:p.Glu144Ala, NP_001366348.1:p.Glu144Ala, XP_024304559.1:p.Glu13Ala, XP_047282907.1:p.Glu184Ala

Select item 147725568416.

rs1477255684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151343122 (GRCh38)
1:151315598 (GRCh37)
Canonical SPDI:: NC_000001.11:151343121:C:T
Gene:: RFX5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151343122C>T, NC_000001.10:g.151315598C>T, NG_007576.1:g.9172G>A, NM_000449.4:c.915G>A, NM_000449.3:c.915G>A, NM_001025603.2:c.915G>A, NM_001025603.1:c.915G>A, NM_001379416.1:c.915G>A, NM_001379415.1:c.915G>A, NM_001379414.1:c.915G>A, NM_001379413.1:c.915G>A, NM_001379417.1:c.915G>A, NM_001379412.1:c.915G>A, NM_001379418.1:c.915G>A, NM_001379420.1:c.795G>A, NM_001379419.1:c.795G>A, XM_024448791.2:c.402G>A, XM_024448791.1:c.402G>A, XM_047426951.1:c.915G>A

Select item 147516315917.

rs1475163159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151342444 (GRCh38)
1:151314920 (GRCh37)
Canonical SPDI:: NC_000001.11:151342443:G:A
Gene:: RFX5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.151342444G>A, NC_000001.10:g.151314920G>A, NG_007576.1:g.9850C>T, NM_000449.4:c.1593C>T, NM_000449.3:c.1593C>T, NM_001025603.2:c.1593C>T, NM_001025603.1:c.1593C>T, NM_001379416.1:c.1593C>T, NM_001379415.1:c.1593C>T, NM_001379414.1:c.1593C>T, NM_001379413.1:c.1593C>T, NM_001379417.1:c.1593C>T, NM_001379412.1:c.1593C>T, NM_001379418.1:c.1593C>T, NM_001379420.1:c.1473C>T, NM_001379419.1:c.1473C>T, XM_024448791.2:c.1080C>T, XM_024448791.1:c.1080C>T, XM_047426951.1:c.1593C>T

Select item 147314595418.

rs1473145954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:151342272 (GRCh38)
1:151314748 (GRCh37)
Canonical SPDI:: NC_000001.11:151342271:G:T
Gene:: RFX5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151342272G>T, NC_000001.10:g.151314748G>T, NG_007576.1:g.10022C>A, NM_000449.4:c.1765C>A, NM_000449.3:c.1765C>A, NM_001025603.2:c.1765C>A, NM_001025603.1:c.1765C>A, NM_001379416.1:c.1765C>A, NM_001379415.1:c.1765C>A, NM_001379414.1:c.1765C>A, NM_001379413.1:c.1765C>A, NM_001379417.1:c.1765C>A, NM_001379412.1:c.1765C>A, NM_001379418.1:c.1765C>A, NM_001379420.1:c.1645C>A, NM_001379419.1:c.1645C>A, XM_024448791.2:c.1252C>A, XM_024448791.1:c.1252C>A, XM_047426951.1:c.1765C>A, NP_000440.1:p.Pro589Thr, NP_001020774.1:p.Pro589Thr, NP_001366345.1:p.Pro589Thr, NP_001366344.1:p.Pro589Thr, NP_001366343.1:p.Pro589Thr, NP_001366342.1:p.Pro589Thr, NP_001366346.1:p.Pro589Thr, NP_001366341.1:p.Pro589Thr, NP_001366347.1:p.Pro589Thr, NP_001366349.1:p.Pro549Thr, NP_001366348.1:p.Pro549Thr, XP_024304559.1:p.Pro418Thr, XP_047282907.1:p.Pro589Thr

Select item 146716052819.

rs1467160528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:151342821 (GRCh38)
1:151315297 (GRCh37)
Canonical SPDI:: NC_000001.11:151342820:G:C
Gene:: RFX5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151342821G>C, NC_000001.10:g.151315297G>C, NG_007576.1:g.9473C>G, NM_000449.4:c.1216C>G, NM_000449.3:c.1216C>G, NM_001025603.2:c.1216C>G, NM_001025603.1:c.1216C>G, NM_001379416.1:c.1216C>G, NM_001379415.1:c.1216C>G, NM_001379414.1:c.1216C>G, NM_001379413.1:c.1216C>G, NM_001379417.1:c.1216C>G, NM_001379412.1:c.1216C>G, NM_001379418.1:c.1216C>G, NM_001379420.1:c.1096C>G, NM_001379419.1:c.1096C>G, XM_024448791.2:c.703C>G, XM_024448791.1:c.703C>G, XM_047426951.1:c.1216C>G, NP_000440.1:p.Leu406Val, NP_001020774.1:p.Leu406Val, NP_001366345.1:p.Leu406Val, NP_001366344.1:p.Leu406Val, NP_001366343.1:p.Leu406Val, NP_001366342.1:p.Leu406Val, NP_001366346.1:p.Leu406Val, NP_001366341.1:p.Leu406Val, NP_001366347.1:p.Leu406Val, NP_001366349.1:p.Leu366Val, NP_001366348.1:p.Leu366Val, XP_024304559.1:p.Leu235Val, XP_047282907.1:p.Leu406Val

Select item 146715302720.

rs1467153027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151342546 (GRCh38)
1:151315022 (GRCh37)
Canonical SPDI:: NC_000001.11:151342545:C:T
Gene:: RFX5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.151342546C>T, NC_000001.10:g.151315022C>T, NG_007576.1:g.9748G>A, NM_000449.4:c.1491G>A, NM_000449.3:c.1491G>A, NM_001025603.2:c.1491G>A, NM_001025603.1:c.1491G>A, NM_001379416.1:c.1491G>A, NM_001379415.1:c.1491G>A, NM_001379414.1:c.1491G>A, NM_001379413.1:c.1491G>A, NM_001379417.1:c.1491G>A, NM_001379412.1:c.1491G>A, NM_001379418.1:c.1491G>A, NM_001379420.1:c.1371G>A, NM_001379419.1:c.1371G>A, XM_024448791.2:c.978G>A, XM_024448791.1:c.978G>A, XM_047426951.1:c.1491G>A

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Result Filters

Clinical Significance

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Items: 1 to 20 of 572

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