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OCA2 c.63G>T ;(p.Q21H)
Variant ID: 15-28326958-C-A
NM_000275.2(
OCA2
):c.63G>T;(p.Q21H)
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:
Rare germline variants in known melanoma susceptibility genes in familial melanoma.
Human Molecular Genetics
Goldstein, Alisa M AM; Xiao, Yanzi Y; Sampson, Joshua J; Zhu, Bin B; Rotunno, Melissa M; Bennett, Hunter H; Wen, Yixuan Y; Jones, Kristine K; Vogt, Aurelie A; Burdette, Laurie L; Luo, Wen W; Zhu, Bin B; Yeager, Meredith M; Hicks, Belynda B; Han, Jiali J; De Vivo, Immaculata I; Koutros, Stella S; Andreotti, Gabriella G; Beane-Freeman, Laura L; Purdue, Mark M; Freedman, Neal D ND; Chanock, Stephen J SJ; Tucker, Margaret A MA; Yang, Xiaohong R XR
Publication Date: 2017-12-15
Variant appearance in text: OCA2: Q21H
PubMed Link:
29036293
Variant Present in the following documents:
Main text
View BVdb publication page