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OCA2 c.1832T>C ;(p.L611P)
Variant ID: 15-28200314-A-G
NM_000275.2(
OCA2
):c.1832T>C;(p.L611P)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.
Bmc Medical Genetics
Yang, Qi Q; Yi, Sheng S; Li, Mengting M; Xie, Bobo B; Luo, Jinsi J; Wang, Jin J; Rong, Xiuliang X; Zhang, Qinle Q; Qin, Zailong Z; Hang, Limei L; Feng, Shihan S; Fan, Xin X
Publication Date: 2019-06-13
Variant appearance in text: OCA2: 1832T>C; L611P
PubMed Link:
31196117
Variant Present in the following documents:
Main text
12881_2019_Article_842.pdf
View BVdb publication page
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: 1832T>C; Leu611Pro
PubMed Link:
31165590
Variant Present in the following documents:
MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page