OCA2 c.1454G>T ;(p.G485V)

Variant ID: 15-28228540-C-A

NM_000275.2(OCA2):c.1454G>T;(p.G485V)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.

Molecular Vision
Renugadevi, Kathirvel K; Sil, Asim Kumar AK; Perumalsamy, Vijayalakshmi V; Sundaresan, Periasamy P
Publication Date: 2010-08-09

Variant appearance in text: OCA2: 1454G>T; G485V
PubMed Link: 20806075
Variant Present in the following documents:
  • Main text
  • mv-v16-1514.pdf
View BVdb publication page