USH2A c.8557A>G ;(p.R2853G)

Variant ID: 1-216052107-T-C

NM_206933.2(USH2A):c.8557A>G;(p.R2853G)

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:

Multimodal imaging and genetic characteristics of Chinese patients with USH2A-associated nonsyndromic retinitis pigmentosa.

Molecular Genetics & Genomic Medicine
Chen, Chong C; Sun, Qiao Q; Gu, Mingmin M; Qian, Tianwei T; Luo, Dawei D; Liu, Kun K; Xu, Xun X; Yu, Suqin S
Publication Date: 2020-11

Variant appearance in text: USH2A: R2853G
PubMed Link: 32893482
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1479.pdf
View BVdb publication page