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OCA2 c.1290T>A ;(p.C430*)
Variant ID: 15-28230284-A-T
NM_000275.2(
OCA2
):c.1290T>A;(p.C430*)
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:
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07
Variant appearance in text: OCA2: 1290T>A; Cys430Ter
PubMed Link:
31165590
Variant Present in the following documents:
MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page