chr15:27926246:C> Detail (hg38) (OCA2)

Information

Genome

Assembly Position
hg19 chr15:28,171,392-28,171,392 
hg38 chr15:27,926,246-27,926,246

HGVS

Type Transcript Protein
RefSeq NM_001300984.1:c.1888delG NP_001287913.1:p.Ala630LeufsTer9
NM_000275.2:c.1960delG NP_000266.2:p.Ala654LeufsTer9
Ensemble ENST00000353809.9:c.1888delG ENST00000353809.9:p.Ala630LeufsTer9
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 1994-02-24 no assertion criteria provided Tyrosinase-positive 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.1960del (p.Ala654fs) AND Tyrosinase-positive 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
rs387906241 dbSNP
Genome
hg38
Position
chr15:27,926,246-27,926,246
Variant Type
snv
Reference Allele
C
Alternative Allele
-
Genome browser