USH2A c.12409del ;(p.R4137Efs*30)

Variant ID: 1-215848844-CT-C

NM_206933.2(USH2A):c.12409del;(p.R4137Efs*30)

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:

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: 12409delA; R4137fs
PubMed Link: 26338283
Variant Present in the following documents:
  • Main text
  • 13023_2015_Article_329.pdf
View BVdb publication page