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OCA2 c.1423A>G ;(p.T475A)
Variant ID: 15-28228571-T-C
NM_000275.2(
OCA2
):c.1423A>G;(p.T475A)
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:
Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.
Frontiers In Genetics
Ma, Linya L; Zhu, Jianjian J; Wang, Jing J; Huang, Yazhou Y; Zhang, Jibo J; Wang, Chao C; Zhou, Yuan Y; Peng, Dan D
Publication Date: 2021
Variant appearance in text: OCA2: 1423A>G; T475A
PubMed Link:
34707637
Variant Present in the following documents:
Main text
fgene-12-715437.pdf
View BVdb publication page