USH2A c.10182+1G>A

Variant ID: 1-215963400-C-T

NM_206933.2(USH2A):c.10182+1G>A

This variant was identified in 2 publications

View GRCh38 version.




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: 10182+1G>A
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8
View BVdb publication page



Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

Human Mutation
Soens, Zachry T ZT; Branch, Justin J; Wu, Shijing S; Yuan, Zhisheng Z; Li, Yumei Y; Li, Hui H; Wang, Keqing K; Xu, Mingchu M; Rajan, Lavan L; Motta, Fabiana L FL; Simões, Renata T RT; Lopez-Solache, Irma I; Ajlan, Radwan R; Birch, David G DG; Zhao, Peiquan P; Porto, Fernanda B FB; Sallum, Juliana J; Koenekoop, Robert K RK; Sui, Ruifang R; Chen, Rui R
Publication Date: 2017-11

Variant appearance in text: USH2A: 10182+1G>A
PubMed Link: 28714225
Variant Present in the following documents:
  • Main text
View BVdb publication page