USH2A c.8483_8486del ;(p.S2828*)

Variant ID: 1-216052177-CACAG-C

NM_206933.2(USH2A):c.8483_8486del;(p.S2828*)

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:

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology
Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X
Publication Date: 2020-12-10

Variant appearance in text: USH2: 8483_8486del
PubMed Link: 33302902
Variant Present in the following documents:
  • Main text
  • 12886_2020_Article_1711.pdf
  • 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1
  • 12886_2020_1711_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page