USH2A c.11197A>G ;(p.N3733D)

Variant ID: 1-215933036-T-C

NM_206933.2(USH2A):c.11197A>G;(p.N3733D)

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:

Autosomal Recessive Rod-Cone Dystrophy Associated With Compound Heterozygous Variants in ARL3 Gene.

Frontiers In Cell And Developmental Biology
Fu, Leming L; Li, Ya Y; Yao, Shun S; Guo, Qingge Q; You, Ya Y; Zhu, Xianjun X; Lei, Bo B
Publication Date: 2021

Variant appearance in text: USH2A: 11197A>G; N3733D
PubMed Link: 33748123
Variant Present in the following documents:
  • Main text
  • fcell-09-635424.pdf
View BVdb publication page