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USH2A c.6752C>A ;(p.S2251*)
Variant ID: 1-216166415-G-T
NM_206933.2(
USH2A
):c.6752C>A;(p.S2251*)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A novel statistical method for interpreting the pathogenicity of rare variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R
Publication Date: 2021-01
Variant appearance in text: USH2A: S2251X
PubMed Link:
32884132
Variant Present in the following documents:
NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8
View BVdb publication page
Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis.
Bmc Medical Genomics
Luo, Haining H; Chen, Chao C; Yang, Yun Y; Zhang, Yinfeng Y; Yuan, Yuan Y; Wang, Wanyang W; Wu, Renhua R; Peng, Zhiyu Z; Han, Ying Y; Jiang, Lu L; Yao, Ruqiang R; An, Xiaoying X; Zhang, Weiwei W; Le, Yanqun Y; Xiang, Jiale J; Yi, Na N; Huang, Hui H; Li, Wei W; Zhang, Yunshan Y; Sun, Jun J
Publication Date: 2019-11-07
Variant appearance in text: USH2A: 6752C>A; Ser2251Ter
PubMed Link:
31699113
Variant Present in the following documents:
Main text
12920_2019_Article_600.pdf
View BVdb publication page
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Orphanet Journal Of Rare Diseases
Jiang, Lichun L; Liang, Xiaofang X; Li, Yumei Y; Wang, Jing J; Zaneveld, Jacques Eric JE; Wang, Hui H; Xu, Shan S; Wang, Keqing K; Wang, Binbin B; Chen, Rui R; Sui, Ruifang R
Publication Date: 2015-09-04
Variant appearance in text: USH2A: S2251X
PubMed Link:
26338283
Variant Present in the following documents:
Main text
13023_2015_Article_329.pdf
View BVdb publication page