USH2A c.13596dup ;(p.S4533Lfs*29)

Variant ID: 1-215847656-A-AG

NM_206933.2(USH2A):c.13596dup;(p.S4533Lfs*29)

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:

Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.

Bmc Medical Genomics
Bai, Zhouxian Z; Xie, Yanchuan Y; Liu, Lina L; Shao, Jingzhi J; Liu, Yuying Y; Kong, Xiangdong X
Publication Date: 2021-03-29

Variant appearance in text: USH2A: 13596dupC
PubMed Link: 33781268
Variant Present in the following documents:
  • Main text
  • 12920_2021_Article_935.pdf
View BVdb publication page