chr15:28231761:G>A Detail (hg19) (OCA2)

Information

Genome

Assembly Position
hg19 chr15:28,231,761-28,231,761
hg38 chr15:27,986,615-27,986,615 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000275.2:c.1211C>T NP_000266.2:p.Thr404Met
NM_001300984.1:c.1139C>T NP_001287913.1:p.Thr380Met
Ensemble ENST00000354638.8:c.1211C>T ENST00000354638.8:p.Thr404Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 611409 OMIM
HGNC 8101 HGNC
Ensembl ENSG00000104044 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM4168871 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2022-08-06 criteria provided, multiple submitters, no conflicts Tyrosinase-positive oculocutaneous albinism germline Detail
Pathogenic Likely pathogenic 2024-01-11 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2017-03-07 no assertion criteria provided Nonsyndromic Oculocutaneous Albinism unknown Detail
Pathogenic 2023-02-28 criteria provided, single submitter OCA2-related disorder germline Detail
Pathogenic 2023-10-14 criteria provided, single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.563 Oculocutaneous albinism type 2 NA CLINVAR Detail
0.563 Oculocutaneous albinism type 2 There are four types of OCA caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TY... UNIPROT 23504663 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) AND Tyrosinase-positive oculocutaneous albinism ClinVar Detail
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) AND not provided ClinVar Detail
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) AND Nonsyndromic Oculocutaneous Albinism ClinVar Detail
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) AND OCA2-related disorder ClinVar Detail
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) AND SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ClinVar Detail
NA DisGeNET Detail
There are four types of OCA caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC4... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs144812594 dbSNP
Genome
hg19
Position
chr15:28,231,761-28,231,761
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121350
Allele Counts in All Race (ExAC)
9
Heterozygous Counts in All Race (ExAC)
9
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.416563658838072E-5
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