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USH2A c.15575_15579del ;(p.K5192Tfs*48)
Variant ID: 1-215799152-GTTCCT-G
NM_206933.2(
USH2A
):c.15575_15579del;(p.K5192Tfs*48)
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:
Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease.
The British Journal Of Ophthalmology
Gao, Feng-Juan FJ; Wang, Dan-Dan DD; Chen, Fang F; Sun, Hao-Xiang HX; Hu, Fang-Yuan FY; Xu, Ping P; Li, Jiankang J; Liu, Wei W; Qi, Yu-He YH; Li, Wei W; Wang, Ming M; Zhang, Shenghai S; Xu, Ge-Zhi GZ; Chang, Qing Q; Wu, Ji-Hong JH
Publication Date: 2021-01
Variant appearance in text: USH2: 15575_15579delAGGAA
PubMed Link:
32188678
Variant Present in the following documents:
Main text
bjophthalmol-2020-315878.pdf
View BVdb publication page