USH2A c.8306C>T ;(p.T2769I)

Variant ID: 1-216052358-G-A

NM_206933.2(USH2A):c.8306C>T;(p.T2769I)

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 mutation of GJA8 in autosomal dominant congenital cataracts.

Annals Of Translational Medicine
Ding, Ning N; Chen, Zhengyu Z; Song, Xudong X; Tang, Xiaoyan X
Publication Date: 2020-09

Variant appearance in text: USH2A: 8306C>T
PubMed Link: 33240976
Variant Present in the following documents:
  • Main text
  • atm-08-18-1127.pdf
View BVdb publication page