Bibliome.ai browser hg19
Search
About
Stats
FAQ
USH2A c.15355C>A ;(p.R5119=)
Variant ID: 1-215802320-G-T
NM_206933.2(
USH2A
):c.15355C>A;(p.R5119=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.
Bmc Ophthalmology
Young, Su Ling SL; Stanton, Chloe M CM; Livesey, Benjamin J BJ; Marsh, Joseph A JA; Cackett, Peter D PD
Publication Date: 2022-03-26
Variant appearance in text: rs767137840
PubMed Link:
35346118
Variant Present in the following documents:
12886_2022_2353_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening.
Scientific Reports
Numa, Shogo S; Oishi, Akio A; Higasa, Koichiro K; Oishi, Maho M; Miyata, Manabu M; Hasegawa, Tomoko T; Ikeda, Hanako Ohashi HO; Otsuka, Yuki Y; Matsuda, Fumihiko F; Tsujikawa, Akitaka A
Publication Date: 2020-11-27
Variant appearance in text: rs767137840
PubMed Link:
33247286
Variant Present in the following documents:
41598_2020_77558_MOESM1_ESM.pdf
View BVdb publication page