USH2A c.14449G>A ;(p.G4817R)

Variant ID: 1-215822003-C-T

NM_206933.2(USH2A):c.14449G>A;(p.G4817R)

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:

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

Journal Of Medical Genetics
McGee, Terri L TL; Seyedahmadi, Babak Jian BJ; Sweeney, Meredith O MO; Dryja, Thaddeus P TP; Berson, Eliot L EL
Publication Date: 2010-07

Variant appearance in text: USH2: 14449G>A
PubMed Link: 20507924
Variant Present in the following documents:
  • Main text
View BVdb publication page