USH2A c.13491T>A ;(p.F4497L)

Variant ID: 1-215847762-A-T

NM_206933.2(USH2A):c.13491T>A;(p.F4497L)

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: 13491T>A; F4497L
PubMed Link: 33748123
Variant Present in the following documents:
  • Main text
  • fcell-09-635424.pdf
View BVdb publication page