chr15:27983383:T>C Detail (hg38) (OCA2)

Information

Genome

Assembly Position
hg19 chr15:28,228,529-28,228,529 View the variant detail on this assembly version.
hg38 chr15:27,983,383-27,983,383

HGVS

Type Transcript Protein
RefSeq NM_001300984.1:c.1393A>G NP_001287913.1:p.Asn465Asp
NM_000275.2:c.1465A>G NP_000266.2:p.Asn489Asp
Ensemble ENST00000353809.9:c.1393A>G ENST00000353809.9:p.Asn465Asp
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2021-11-07 criteria provided, multiple submitters, no conflicts Tyrosinase-positive oculocutaneous albinism germline Detail
Pathogenic Likely pathogenic 2024-01-21 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES,Tyrosinase-positive oculocutaneous albinism unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES,Tyrosinase-positive oculocutaneous albinism unknown Detail
Pathogenic 2024-02-08 criteria provided, single submitter OCA2-related disorder germline Detail
Pathogenic 2023-10-31 criteria provided, single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES unknown Detail
Pathogenic 2023-12-12 criteria provided, single submitter oculocutaneous albinism germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.563 Oculocutaneous albinism type 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) AND Tyrosinase-positive oculocutaneous albinism ClinVar Detail
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) AND not provided ClinVar Detail
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) AND multiple conditions ClinVar Detail
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) AND multiple conditions ClinVar Detail
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) AND OCA2-related disorder ClinVar Detail
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) AND SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ClinVar Detail
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) AND Oculocutaneous albinism ClinVar Detail
NA 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
rs121918170 dbSNP
Genome
hg38
Position
chr15:27,983,383-27,983,383
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121406
Allele Counts in All Race (ExAC)
38
Heterozygous Counts in All Race (ExAC)
38
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.1299935752763456E-4
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