USH2A c.12086dup ;(p.H4029Qfs*70)

Variant ID: 1-215853698-G-GT

NM_206933.2(USH2A):c.12086dup;(p.H4029Qfs*70)

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:

Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.

Molecular Medicine Reports
Zhu, Xiong X; Li, Xiao X; Tian, Wanli W; Yang, Yeming Y; Sun, Kuanxiang K; Li, Shuzhen S; Zhu, Xianjun X
Publication Date: 2020-07

Variant appearance in text: USH2A: 12086dupA
PubMed Link: 32319668
Variant Present in the following documents:
  • Main text
  • mmr-22-01-0193.pdf
View BVdb publication page


Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients.

Scientific Reports
Ng, Tsz Kin TK; Tang, Wenyu W; Cao, Yingjie Y; Chen, Shaowan S; Zheng, Yuqian Y; Xiao, Xiaoqiang X; Chen, Haoyu H
Publication Date: 2019-04-04

Variant appearance in text: USH2A: 12086dupA
PubMed Link: 30948794
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_42105.pdf
View BVdb publication page