SNP Links for Protein (Select 768003900) - SNP

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Links from Protein

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Select item 14883520781.

rs1488352078 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:20950107 (GRCh38)
19:21132913 (GRCh37)
Canonical SPDI:: NC_000019.10:20950106:T:A
Gene:: ZNF85 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_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_000019.10:g.20950107T>A, NC_000019.9:g.21132913T>A, NW_003315962.1:g.293383T>A, NM_003429.5:c.1593T>A, NM_003429.4:c.1593T>A, NM_001256173.2:c.1401T>A, NM_001256173.1:c.1401T>A, NM_001256171.2:c.1683T>A, NM_001256171.1:c.1683T>A, XM_011528264.1:c.1416T>A, XM_047439353.1:c.1632T>A, XM_047439359.1:c.1362T>A, XM_047439356.1:c.1362T>A, XM_047439357.1:c.1362T>A, XM_011528263.3:c.1728T>A, XM_011528263.2:c.1728T>A, XM_011528263.1:c.1728T>A, XM_047439354.1:c.1437T>A, XM_047439358.1:c.1362T>A, XM_047439355.1:c.1362T>A

Select item 14869639022.

rs1486963902 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:20949737 (GRCh38)
19:21132543 (GRCh37)
Canonical SPDI:: NC_000019.10:20949736:A:C
Gene:: ZNF85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.20949737A>C, NC_000019.9:g.21132543A>C, NW_003315962.1:g.293013A>C, NM_003429.5:c.1223A>C, NM_003429.4:c.1223A>C, NM_001256173.2:c.1031A>C, NM_001256173.1:c.1031A>C, NM_001256171.2:c.1313A>C, NM_001256171.1:c.1313A>C, XM_011528264.1:c.1046A>C, XM_047439353.1:c.1262A>C, XM_047439359.1:c.992A>C, XM_047439356.1:c.992A>C, XM_047439357.1:c.992A>C, XM_011528263.3:c.1358A>C, XM_011528263.2:c.1358A>C, XM_011528263.1:c.1358A>C, XM_047439354.1:c.1067A>C, XM_047439358.1:c.992A>C, XM_047439355.1:c.992A>C, NP_003420.2:p.Lys408Thr, NP_001243102.1:p.Lys344Thr, NP_001243100.1:p.Lys438Thr, XP_011526566.1:p.Lys349Thr, XP_047295309.1:p.Lys421Thr, XP_047295315.1:p.Lys331Thr, XP_047295312.1:p.Lys331Thr, XP_047295313.1:p.Lys331Thr, XP_011526565.1:p.Lys453Thr, XP_047295310.1:p.Lys356Thr, XP_047295314.1:p.Lys331Thr, XP_047295311.1:p.Lys331Thr

Select item 14867970853.

rs1486797085 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:20934030 (GRCh38)
19:21116836 (GRCh37)
Canonical SPDI:: NC_000019.10:20934029:T:C
Gene:: ZNF85 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000019.10:g.20934030T>C, NC_000019.9:g.21116836T>C, NW_003315962.1:g.277306T>C, NM_003429.5:c.10T>C, NM_003429.4:c.10T>C, XM_011528263.3:c.10T>C, XM_011528263.2:c.10T>C, XM_011528263.1:c.10T>C, NM_001256171.2:c.10T>C, NM_001256171.1:c.10T>C, NR_045830.2:n.173T>C, NR_045830.1:n.171T>C, NM_001256172.2:c.10T>C, NM_001256172.1:c.10T>C, XM_047439353.1:c.-87T>C, NR_034060.1:n.158T>C

Select item 14864304624.

rs1486430462 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:20948843 (GRCh38)
19:21131649 (GRCh37)
Canonical SPDI:: NC_000019.10:20948842:A:C
Gene:: ZNF85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.20948843A>C, NC_000019.9:g.21131649A>C, NW_003315962.1:g.292119A>C, NM_003429.5:c.329A>C, NM_003429.4:c.329A>C, NM_001256173.2:c.137A>C, NM_001256173.1:c.137A>C, NM_001256171.2:c.419A>C, NM_001256171.1:c.419A>C, XM_011528264.1:c.152A>C, XM_047439353.1:c.368A>C, XM_047439359.1:c.98A>C, XM_047439356.1:c.98A>C, XM_047439357.1:c.98A>C, XM_011528263.3:c.464A>C, XM_011528263.2:c.464A>C, XM_011528263.1:c.464A>C, XM_047439354.1:c.173A>C, XM_047439358.1:c.98A>C, XM_047439355.1:c.98A>C, NP_003420.2:p.Glu110Ala, NP_001243102.1:p.Glu46Ala, NP_001243100.1:p.Glu140Ala, XP_011526566.1:p.Glu51Ala, XP_047295309.1:p.Glu123Ala, XP_047295315.1:p.Glu33Ala, XP_047295312.1:p.Glu33Ala, XP_047295313.1:p.Glu33Ala, XP_011526565.1:p.Glu155Ala, XP_047295310.1:p.Glu58Ala, XP_047295314.1:p.Glu33Ala, XP_047295311.1:p.Glu33Ala

Select item 14858909055.

rs1485890905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:20949982 (GRCh38)
19:21132788 (GRCh37)
Canonical SPDI:: NC_000019.10:20949981:G:A
Gene:: ZNF85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.20949982G>A, NC_000019.9:g.21132788G>A, NW_003315962.1:g.293258G>A, NM_003429.5:c.1468G>A, NM_003429.4:c.1468G>A, NM_001256173.2:c.1276G>A, NM_001256173.1:c.1276G>A, NM_001256171.2:c.1558G>A, NM_001256171.1:c.1558G>A, XM_011528264.1:c.1291G>A, XM_047439359.1:c.1237G>A, XM_047439356.1:c.1237G>A, XM_047439357.1:c.1237G>A, XM_011528263.3:c.1603G>A, XM_011528263.2:c.1603G>A, XM_011528263.1:c.1603G>A, XM_047439354.1:c.1312G>A, XM_047439358.1:c.1237G>A, XM_047439355.1:c.1237G>A, XM_047439353.1:c.1507G>A, NP_003420.2:p.Gly490Ser, NP_001243102.1:p.Gly426Ser, NP_001243100.1:p.Gly520Ser, XP_011526566.1:p.Gly431Ser, XP_047295315.1:p.Gly413Ser, XP_047295312.1:p.Gly413Ser, XP_047295313.1:p.Gly413Ser, XP_011526565.1:p.Gly535Ser, XP_047295310.1:p.Gly438Ser, XP_047295314.1:p.Gly413Ser, XP_047295311.1:p.Gly413Ser, XP_047295309.1:p.Gly503Ser

Select item 14857806296.

rs1485780629 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:20949084 (GRCh38)
19:21131890 (GRCh37)
Canonical SPDI:: NC_000019.10:20949083:TG:
Gene:: ZNF85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.20949084_20949085del, NC_000019.9:g.21131890_21131891del, NW_003315962.1:g.292360_292361del, NM_003429.5:c.570_571del, NM_003429.4:c.570_571del, NM_001256173.2:c.378_379del, NM_001256173.1:c.378_379del, NM_001256171.2:c.660_661del, NM_001256171.1:c.660_661del, XM_011528264.1:c.393_394del, XM_047439359.1:c.339_340del, XM_047439356.1:c.339_340del, XM_047439357.1:c.339_340del, XM_011528263.3:c.705_706del, XM_011528263.2:c.705_706del, XM_011528263.1:c.705_706del, XM_047439354.1:c.414_415del, XM_047439358.1:c.339_340del, XM_047439355.1:c.339_340del, XM_047439353.1:c.609_610del, NP_003420.2:p.Glu191fs, NP_001243102.1:p.Glu127fs, NP_001243100.1:p.Glu221fs, XP_011526566.1:p.Glu132fs, XP_047295315.1:p.Glu114fs, XP_047295312.1:p.Glu114fs, XP_047295313.1:p.Glu114fs, XP_011526565.1:p.Glu236fs, XP_047295310.1:p.Glu139fs, XP_047295314.1:p.Glu114fs, XP_047295311.1:p.Glu114fs, XP_047295309.1:p.Glu204fs

Select item 14839094807.

rs1483909480 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:20950187 (GRCh38)
19:21132993 (GRCh37)
Canonical SPDI:: NC_000019.10:20950183:AGAGA:AGA
Gene:: ZNF85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.20950185GA[1], NC_000019.9:g.21132991GA[1], NW_003315962.1:g.293461GA[1], NM_003429.5:c.1673_1674del, NM_003429.4:c.1673_1674del, NM_001256173.2:c.1481_1482del, NM_001256173.1:c.1481_1482del, NM_001256171.2:c.1763_1764del, NM_001256171.1:c.1763_1764del, XM_011528264.1:c.1496_1497del, XM_047439353.1:c.1712_1713del, XM_047439359.1:c.1442_1443del, XM_047439356.1:c.1442_1443del, XM_047439357.1:c.1442_1443del, XM_011528263.3:c.1808_1809del, XM_011528263.2:c.1808_1809del, XM_011528263.1:c.1808_1809del, XM_047439354.1:c.1517_1518del, XM_047439358.1:c.1442_1443del, XM_047439355.1:c.1442_1443del, NP_003420.2:p.Arg558fs, NP_001243102.1:p.Arg494fs, NP_001243100.1:p.Arg588fs, XP_011526566.1:p.Arg499fs, XP_047295309.1:p.Arg571fs, XP_047295315.1:p.Arg481fs, XP_047295312.1:p.Arg481fs, XP_047295313.1:p.Arg481fs, XP_011526565.1:p.Arg603fs, XP_047295310.1:p.Arg506fs, XP_047295314.1:p.Arg481fs, XP_047295311.1:p.Arg481fs

Select item 14822932978.

rs1482293297 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:20949525 (GRCh38)
19:21132331 (GRCh37)
Canonical SPDI:: NC_000019.10:20949524:T:C
Gene:: ZNF85 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.20949525T>C, NC_000019.9:g.21132331T>C, NW_003315962.1:g.292801T>C, NM_003429.5:c.1011T>C, NM_003429.4:c.1011T>C, NM_001256173.2:c.819T>C, NM_001256173.1:c.819T>C, NM_001256171.2:c.1101T>C, NM_001256171.1:c.1101T>C, XM_011528264.1:c.834T>C, XM_047439353.1:c.1050T>C, XM_047439359.1:c.780T>C, XM_047439356.1:c.780T>C, XM_047439357.1:c.780T>C, XM_011528263.3:c.1146T>C, XM_011528263.2:c.1146T>C, XM_011528263.1:c.1146T>C, XM_047439354.1:c.855T>C, XM_047439358.1:c.780T>C, XM_047439355.1:c.780T>C

Select item 14818013499.

rs1481801349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:20948911 (GRCh38)
19:21131717 (GRCh37)
Canonical SPDI:: NC_000019.10:20948910:G:A
Gene:: ZNF85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.20948911G>A, NC_000019.9:g.21131717G>A, NW_003315962.1:g.292187G>A, NM_003429.5:c.397G>A, NM_003429.4:c.397G>A, NM_001256173.2:c.205G>A, NM_001256173.1:c.205G>A, NM_001256171.2:c.487G>A, NM_001256171.1:c.487G>A, XM_011528264.1:c.220G>A, XM_047439359.1:c.166G>A, XM_047439356.1:c.166G>A, XM_047439357.1:c.166G>A, XM_011528263.3:c.532G>A, XM_011528263.2:c.532G>A, XM_011528263.1:c.532G>A, XM_047439354.1:c.241G>A, XM_047439358.1:c.166G>A, XM_047439355.1:c.166G>A, XM_047439353.1:c.436G>A, NP_003420.2:p.Gly133Arg, NP_001243102.1:p.Gly69Arg, NP_001243100.1:p.Gly163Arg, XP_011526566.1:p.Gly74Arg, XP_047295315.1:p.Gly56Arg, XP_047295312.1:p.Gly56Arg, XP_047295313.1:p.Gly56Arg, XP_011526565.1:p.Gly178Arg, XP_047295310.1:p.Gly81Arg, XP_047295314.1:p.Gly56Arg, XP_047295311.1:p.Gly56Arg, XP_047295309.1:p.Gly146Arg

Select item 147786577310.

rs1477865773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:20948755 (GRCh38)
19:21131561 (GRCh37)
Canonical SPDI:: NC_000019.10:20948754:C:T
Gene:: ZNF85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_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_000019.10:g.20948755C>T, NC_000019.9:g.21131561C>T, NW_003315962.1:g.292031C>T, NM_003429.5:c.241C>T, NM_003429.4:c.241C>T, NM_001256173.2:c.49C>T, NM_001256173.1:c.49C>T, NM_001256171.2:c.331C>T, NM_001256171.1:c.331C>T, XM_011528264.1:c.64C>T, XM_047439359.1:c.10C>T, XM_047439356.1:c.10C>T, XM_047439357.1:c.10C>T, XM_011528263.3:c.376C>T, XM_011528263.2:c.376C>T, XM_011528263.1:c.376C>T, XM_047439354.1:c.85C>T, XM_047439358.1:c.10C>T, XM_047439355.1:c.10C>T, XM_047439353.1:c.280C>T, NP_003420.2:p.His81Tyr, NP_001243102.1:p.His17Tyr, NP_001243100.1:p.His111Tyr, XP_011526566.1:p.His22Tyr, XP_047295315.1:p.His4Tyr, XP_047295312.1:p.His4Tyr, XP_047295313.1:p.His4Tyr, XP_011526565.1:p.His126Tyr, XP_047295310.1:p.His29Tyr, XP_047295314.1:p.His4Tyr, XP_047295311.1:p.His4Tyr, XP_047295309.1:p.His94Tyr

Select item 147698752011.

rs1476987520 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:20946316 (GRCh38)
19:21129122 (GRCh37)
Canonical SPDI:: NC_000019.10:20946315:A:C,NC_000019.10:20946315:A:G
Gene:: ZNF85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.20946316A>C, NC_000019.10:g.20946316A>G, NC_000019.9:g.21129122A>C, NC_000019.9:g.21129122A>G, NW_003315962.1:g.289592A>C, NW_003315962.1:g.289592A>G, XM_011528263.3:c.291A>C, XM_011528263.3:c.291A>G, XM_011528263.2:c.291A>C, XM_011528263.2:c.291A>G, XM_011528263.1:c.291A>C, XM_011528263.1:c.291A>G, NM_001256171.2:c.246A>C, NM_001256171.2:c.246A>G, NM_001256171.1:c.246A>C, NM_001256171.1:c.246A>G, XM_047439353.1:c.195A>C, XM_047439353.1:c.195A>G, XM_047439354.1:c.-1A>C, XM_047439354.1:c.-1A>G, XM_047439356.1:c.-27A>C, XM_047439356.1:c.-27A>G, XM_047439357.1:c.-27A>C, XM_047439357.1:c.-27A>G, XP_011526565.1:p.Arg97Ser, NP_001243100.1:p.Arg82Ser, XP_047295309.1:p.Arg65Ser

Select item 147526655412.

rs1475266554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:20949181 (GRCh38)
19:21131987 (GRCh37)
Canonical SPDI:: NC_000019.10:20949180:A:G
Gene:: ZNF85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.20949181A>G, NC_000019.9:g.21131987A>G, NW_003315962.1:g.292457A>G, NM_003429.5:c.667A>G, NM_003429.4:c.667A>G, NM_001256173.2:c.475A>G, NM_001256173.1:c.475A>G, NM_001256171.2:c.757A>G, NM_001256171.1:c.757A>G, XM_011528264.1:c.490A>G, XM_047439353.1:c.706A>G, XM_047439359.1:c.436A>G, XM_047439356.1:c.436A>G, XM_047439357.1:c.436A>G, XM_011528263.3:c.802A>G, XM_011528263.2:c.802A>G, XM_011528263.1:c.802A>G, XM_047439354.1:c.511A>G, XM_047439358.1:c.436A>G, XM_047439355.1:c.436A>G, NP_003420.2:p.Ile223Val, NP_001243102.1:p.Ile159Val, NP_001243100.1:p.Ile253Val, XP_011526566.1:p.Ile164Val, XP_047295309.1:p.Ile236Val, XP_047295315.1:p.Ile146Val, XP_047295312.1:p.Ile146Val, XP_047295313.1:p.Ile146Val, XP_011526565.1:p.Ile268Val, XP_047295310.1:p.Ile171Val, XP_047295314.1:p.Ile146Val, XP_047295311.1:p.Ile146Val

Select item 146887802413.

rs1468878024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:20950133 (GRCh38)
19:21132939 (GRCh37)
Canonical SPDI:: NC_000019.10:20950132:G:A
Gene:: ZNF85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000019.10:g.20950133G>A, NC_000019.9:g.21132939G>A, NW_003315962.1:g.293409G>A, NM_003429.5:c.1619G>A, NM_003429.4:c.1619G>A, XM_011528263.3:c.1754G>A, XM_011528263.2:c.1754G>A, XM_011528263.1:c.1754G>A, NM_001256171.2:c.1709G>A, NM_001256171.1:c.1709G>A, NM_001256173.2:c.1427G>A, NM_001256173.1:c.1427G>A, XM_011528264.1:c.1442G>A, XM_047439353.1:c.1658G>A, XM_047439354.1:c.1463G>A, XM_047439359.1:c.1388G>A, XM_047439356.1:c.1388G>A, XM_047439357.1:c.1388G>A, XM_047439355.1:c.1388G>A, XM_047439358.1:c.1388G>A, NP_003420.2:p.Cys540Tyr, XP_011526565.1:p.Cys585Tyr, NP_001243100.1:p.Cys570Tyr, NP_001243102.1:p.Cys476Tyr, XP_011526566.1:p.Cys481Tyr, XP_047295309.1:p.Cys553Tyr, XP_047295310.1:p.Cys488Tyr, XP_047295315.1:p.Cys463Tyr, XP_047295312.1:p.Cys463Tyr, XP_047295313.1:p.Cys463Tyr, XP_047295311.1:p.Cys463Tyr, XP_047295314.1:p.Cys463Tyr

Select item 146657447614.

rs1466574476 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:20950210 (GRCh38)
19:21133016 (GRCh37)
Canonical SPDI:: NC_000019.10:20950209:T:C
Gene:: ZNF85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.20950210T>C, NC_000019.9:g.21133016T>C, NW_003315962.1:g.293486T>C, NM_003429.5:c.1696T>C, NM_003429.4:c.1696T>C, NM_001256173.2:c.1504T>C, NM_001256173.1:c.1504T>C, NM_001256171.2:c.1786T>C, NM_001256171.1:c.1786T>C, XM_011528264.1:c.1519T>C, XM_047439353.1:c.1735T>C, XM_047439359.1:c.1465T>C, XM_047439356.1:c.1465T>C, XM_047439357.1:c.1465T>C, XM_011528263.3:c.1831T>C, XM_011528263.2:c.1831T>C, XM_011528263.1:c.1831T>C, XM_047439354.1:c.1540T>C, XM_047439358.1:c.1465T>C, XM_047439355.1:c.1465T>C, NP_003420.2:p.Tyr566His, NP_001243102.1:p.Tyr502His, NP_001243100.1:p.Tyr596His, XP_011526566.1:p.Tyr507His, XP_047295309.1:p.Tyr579His, XP_047295315.1:p.Tyr489His, XP_047295312.1:p.Tyr489His, XP_047295313.1:p.Tyr489His, XP_011526565.1:p.Tyr611His, XP_047295310.1:p.Tyr514His, XP_047295314.1:p.Tyr489His, XP_047295311.1:p.Tyr489His

Select item 146436537815.

rs1464365378 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:20948775 (GRCh38)
19:21131582 (GRCh37)
Canonical SPDI:: NC_000019.10:20948775:CC:CCC
Gene:: ZNF85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CCC=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.20948777dup, NC_000019.9:g.21131583dup, NW_003315962.1:g.292053dup, NM_003429.5:c.263dup, NM_003429.4:c.263dup, XM_011528263.3:c.398dup, XM_011528263.2:c.398dup, XM_011528263.1:c.398dup, NM_001256171.2:c.353dup, NM_001256171.1:c.353dup, NM_001256173.2:c.71dup, NM_001256173.1:c.71dup, XM_011528264.1:c.86dup, XM_047439353.1:c.302dup, XM_047439354.1:c.107dup, XM_047439359.1:c.32dup, XM_047439356.1:c.32dup, XM_047439357.1:c.32dup, XM_047439355.1:c.32dup, XM_047439358.1:c.32dup, NP_003420.2:p.Glu89fs, XP_011526565.1:p.Glu134fs, NP_001243100.1:p.Glu119fs, NP_001243102.1:p.Glu25fs, XP_011526566.1:p.Glu30fs, XP_047295309.1:p.Glu102fs, XP_047295310.1:p.Glu37fs, XP_047295315.1:p.Glu12fs, XP_047295312.1:p.Glu12fs, XP_047295313.1:p.Glu12fs, XP_047295311.1:p.Glu12fs, XP_047295314.1:p.Glu12fs

Select item 146361868916.

rs1463618689 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:20948952 (GRCh38)
19:21131758 (GRCh37)
Canonical SPDI:: NC_000019.10:20948951:T:A
Gene:: ZNF85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.20948952T>A, NC_000019.9:g.21131758T>A, NW_003315962.1:g.292228T>A, NM_003429.5:c.438T>A, NM_003429.4:c.438T>A, XM_011528263.3:c.573T>A, XM_011528263.2:c.573T>A, XM_011528263.1:c.573T>A, NM_001256171.2:c.528T>A, NM_001256171.1:c.528T>A, NM_001256173.2:c.246T>A, NM_001256173.1:c.246T>A, XM_011528264.1:c.261T>A, XM_047439354.1:c.282T>A, XM_047439359.1:c.207T>A, XM_047439356.1:c.207T>A, XM_047439357.1:c.207T>A, XM_047439355.1:c.207T>A, XM_047439358.1:c.207T>A, XM_047439353.1:c.477T>A, NP_003420.2:p.Phe146Leu, XP_011526565.1:p.Phe191Leu, NP_001243100.1:p.Phe176Leu, NP_001243102.1:p.Phe82Leu, XP_011526566.1:p.Phe87Leu, XP_047295310.1:p.Phe94Leu, XP_047295315.1:p.Phe69Leu, XP_047295312.1:p.Phe69Leu, XP_047295313.1:p.Phe69Leu, XP_047295311.1:p.Phe69Leu, XP_047295314.1:p.Phe69Leu, XP_047295309.1:p.Phe159Leu

Select item 146085415917.

rs1460854159 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:20949680 (GRCh38)
19:21132486 (GRCh37)
Canonical SPDI:: NC_000019.10:20949679:A:T
Gene:: ZNF85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.20949680A>T, NC_000019.9:g.21132486A>T, NW_003315962.1:g.292956A>T, NM_003429.5:c.1166A>T, NM_003429.4:c.1166A>T, NM_001256173.2:c.974A>T, NM_001256173.1:c.974A>T, NM_001256171.2:c.1256A>T, NM_001256171.1:c.1256A>T, XM_011528264.1:c.989A>T, XM_047439359.1:c.935A>T, XM_047439356.1:c.935A>T, XM_047439357.1:c.935A>T, XM_011528263.3:c.1301A>T, XM_011528263.2:c.1301A>T, XM_011528263.1:c.1301A>T, XM_047439354.1:c.1010A>T, XM_047439358.1:c.935A>T, XM_047439355.1:c.935A>T, XM_047439353.1:c.1205A>T, NP_003420.2:p.Lys389Met, NP_001243102.1:p.Lys325Met, NP_001243100.1:p.Lys419Met, XP_011526566.1:p.Lys330Met, XP_047295315.1:p.Lys312Met, XP_047295312.1:p.Lys312Met, XP_047295313.1:p.Lys312Met, XP_011526565.1:p.Lys434Met, XP_047295310.1:p.Lys337Met, XP_047295314.1:p.Lys312Met, XP_047295311.1:p.Lys312Met, XP_047295309.1:p.Lys402Met

Select item 146014485118.

rs1460144851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:20950245 (GRCh38)
19:21133051 (GRCh37)
Canonical SPDI:: NC_000019.10:20950244:G:A
Gene:: ZNF85 (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.20950245G>A, NC_000019.9:g.21133051G>A, NW_003315962.1:g.293521G>A, NM_003429.5:c.1731G>A, NM_003429.4:c.1731G>A, NM_001256173.2:c.1539G>A, NM_001256173.1:c.1539G>A, NM_001256171.2:c.1821G>A, NM_001256171.1:c.1821G>A, XM_011528264.1:c.1554G>A, XM_047439353.1:c.1770G>A, XM_047439359.1:c.1500G>A, XM_047439356.1:c.1500G>A, XM_047439357.1:c.1500G>A, XM_011528263.3:c.1866G>A, XM_011528263.2:c.1866G>A, XM_011528263.1:c.1866G>A, XM_047439354.1:c.1575G>A, XM_047439358.1:c.1500G>A, XM_047439355.1:c.1500G>A, NP_003420.2:p.Trp577Ter, NP_001243102.1:p.Trp513Ter, NP_001243100.1:p.Trp607Ter, XP_011526566.1:p.Trp518Ter, XP_047295309.1:p.Trp590Ter, XP_047295315.1:p.Trp500Ter, XP_047295312.1:p.Trp500Ter, XP_047295313.1:p.Trp500Ter, XP_011526565.1:p.Trp622Ter, XP_047295310.1:p.Trp525Ter, XP_047295314.1:p.Trp500Ter, XP_047295311.1:p.Trp500Ter

Select item 145640829819.

rs1456408298 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:20949017 (GRCh38)
19:21131823 (GRCh37)
Canonical SPDI:: NC_000019.10:20949016:A:G,NC_000019.10:20949016:A:T
Gene:: ZNF85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.20949017A>G, NC_000019.10:g.20949017A>T, NC_000019.9:g.21131823A>G, NC_000019.9:g.21131823A>T, NW_003315962.1:g.292293A>G, NW_003315962.1:g.292293A>T, NM_003429.5:c.503A>G, NM_003429.5:c.503A>T, NM_003429.4:c.503A>G, NM_003429.4:c.503A>T, XM_011528263.3:c.638A>G, XM_011528263.3:c.638A>T, XM_011528263.2:c.638A>G, XM_011528263.2:c.638A>T, XM_011528263.1:c.638A>G, XM_011528263.1:c.638A>T, NM_001256171.2:c.593A>G, NM_001256171.2:c.593A>T, NM_001256171.1:c.593A>G, NM_001256171.1:c.593A>T, NM_001256173.2:c.311A>G, NM_001256173.2:c.311A>T, NM_001256173.1:c.311A>G, NM_001256173.1:c.311A>T, XM_011528264.1:c.326A>G, XM_011528264.1:c.326A>T, XM_047439353.1:c.542A>G, XM_047439353.1:c.542A>T, XM_047439354.1:c.347A>G, XM_047439354.1:c.347A>T, XM_047439359.1:c.272A>G, XM_047439359.1:c.272A>T, XM_047439356.1:c.272A>G, XM_047439356.1:c.272A>T, XM_047439357.1:c.272A>G, XM_047439357.1:c.272A>T, XM_047439355.1:c.272A>G, XM_047439355.1:c.272A>T, XM_047439358.1:c.272A>G, XM_047439358.1:c.272A>T, NP_003420.2:p.His168Arg, NP_003420.2:p.His168Leu, XP_011526565.1:p.His213Arg, XP_011526565.1:p.His213Leu, NP_001243100.1:p.His198Arg, NP_001243100.1:p.His198Leu, NP_001243102.1:p.His104Arg, NP_001243102.1:p.His104Leu, XP_011526566.1:p.His109Arg, XP_011526566.1:p.His109Leu, XP_047295309.1:p.His181Arg, XP_047295309.1:p.His181Leu, XP_047295310.1:p.His116Arg, XP_047295310.1:p.His116Leu, XP_047295315.1:p.His91Arg, XP_047295315.1:p.His91Leu, XP_047295312.1:p.His91Arg, XP_047295312.1:p.His91Leu, XP_047295313.1:p.His91Arg, XP_047295313.1:p.His91Leu, XP_047295311.1:p.His91Arg, XP_047295311.1:p.His91Leu, XP_047295314.1:p.His91Arg, XP_047295314.1:p.His91Leu

Select item 145508948620.

rs1455089486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:20950228 (GRCh38)
19:21133034 (GRCh37)
Canonical SPDI:: NC_000019.10:20950227:G:A
Gene:: ZNF85 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.20950228G>A, NC_000019.9:g.21133034G>A, NW_003315962.1:g.293504G>A, NM_003429.5:c.1714G>A, NM_003429.4:c.1714G>A, NM_001256173.2:c.1522G>A, NM_001256173.1:c.1522G>A, NM_001256171.2:c.1804G>A, NM_001256171.1:c.1804G>A, XM_011528264.1:c.1537G>A, XM_047439353.1:c.1753G>A, XM_047439359.1:c.1483G>A, XM_047439356.1:c.1483G>A, XM_047439357.1:c.1483G>A, XM_011528263.3:c.1849G>A, XM_011528263.2:c.1849G>A, XM_011528263.1:c.1849G>A, XM_047439354.1:c.1558G>A, XM_047439358.1:c.1483G>A, XM_047439355.1:c.1483G>A, NP_003420.2:p.Asp572Asn, NP_001243102.1:p.Asp508Asn, NP_001243100.1:p.Asp602Asn, XP_011526566.1:p.Asp513Asn, XP_047295309.1:p.Asp585Asn, XP_047295315.1:p.Asp495Asn, XP_047295312.1:p.Asp495Asn, XP_047295313.1:p.Asp495Asn, XP_011526565.1:p.Asp617Asn, XP_047295310.1:p.Asp520Asn, XP_047295314.1:p.Asp495Asn, XP_047295311.1:p.Asp495Asn

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