OCA2 c.238T>C ;(p.S80P)

Variant ID: 15-28277299-A-G

NM_000275.2(OCA2):c.238T>C;(p.S80P)

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:

Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Cell & Bioscience
Gao, Jackson J; D'Souza, Leera L; Wetherby, Keith K; Antolik, Christian C; Reeves, Melissa M; Adams, David R DR; Tumminia, Santa S; Wang, Xinjing X
Publication Date: 2017

Variant appearance in text: OCA2: 238T>C
PubMed Link: 28451379
Variant Present in the following documents:
  • Main text
  • 13578_2017_Article_149.pdf
View BVdb publication page