USH2A c.13939G>A ;(p.G4647R)

Variant ID: 1-215844508-C-T

NM_206933.2(USH2A):c.13939G>A;(p.G4647R)

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:

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.

Bmc Genomics
Yoon, Chang-Ki CK; Kim, Nayoung K D NK; Joung, Je-Gun JG; Shin, Joo Young JY; Park, Jung Hyun JH; Eum, Hye-Hyun HH; Lee, Hae-Ock HO; Park, Woong-Yang WY; Yu, Hyeong Gon HG
Publication Date: 2015-07-09

Variant appearance in text: USH2A: G4647R
PubMed Link: 26155838
Variant Present in the following documents:
  • Main text
  • 12864_2015_Article_1723.pdf
View BVdb publication page