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.




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