chr15:28022554:G>A Detail (hg38) (OCA2)

Information

Genome

Assembly Position
hg19 chr15:28,267,700-28,267,700 View the variant detail on this assembly version.
hg38 chr15:28,022,554-28,022,554

HGVS

Type Transcript Protein
RefSeq NM_001300984.1:c.593C>T NP_001287913.1:p.Pro198Leu
NM_000275.2:c.593C>T NP_000266.2:p.Pro198Leu
Ensemble ENST00000353809.9:c.593C>T ENST00000353809.9:p.Pro198Leu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 Conflicting classifications of pathogenicity
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 tgv52360490 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic oculocutaneous albinism type 2 germline MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-01-29 criteria provided, conflicting interpretations not provided germline Detail
Likely pathogenic 2022-01-03 criteria provided, multiple submitters, no conflicts Tyrosinase-positive oculocutaneous albinism germline Detail
Pathogenic 2023-10-05 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 Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japan... UNIPROT 12713581 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) AND not provided ClinVar Detail
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) AND Tyrosinase-positive oculocutaneous albinism ClinVar Detail
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) AND SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ClinVar Detail
Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. 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
rs183487020 dbSNP
Genome
hg38
Position
chr15:28,022,554-28,022,554
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8622
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3196474135931338E-4
Chromosome Counts in All Race (ExAC)
120500
Allele Counts in All Race (ExAC)
18
Heterozygous Counts in All Race (ExAC)
18
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.4937759336099585E-4
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