USH2A c.12431del ;(p.A4144Gfs*23)

Variant ID: 1-215848822-CG-C

NM_206933.2(USH2A):c.12431del;(p.A4144Gfs*23)

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: 12431delC; A4144fs
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8
View BVdb publication page



Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.

Orphanet Journal Of Rare Diseases
Mutai, Hideki H; Suzuki, Naohiro N; Shimizu, Atsushi A; Torii, Chiharu C; Namba, Kazunori K; Morimoto, Noriko N; Kudoh, Jun J; Kaga, Kimitaka K; Kosaki, Kenjiro K; Matsunaga, Tatsuo T
Publication Date: 2013-10-28

Variant appearance in text: USH2A: 12431delC; A4144GfsX23
PubMed Link: 24164807
Variant Present in the following documents:
  • Main text
  • 1750-1172-8-172.pdf
View BVdb publication page