PSEN1 c.828G>T ;(p.Q276H)

Variant ID: 14-73664797-G-T

NM_000021.3(PSEN1):c.828G>T;(p.Q276H)

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 and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.

Genes
Oishi, Akio A; Fujinami, Kaoru K; Mawatari, Go G; Naoi, Nobuhisa N; Ikeda, Yasuhiro Y; Ueno, Shinji S; Kuniyoshi, Kazuki K; Hayashi, Takaaki T; Kondo, Hiroyuki H; Mizota, Atsushi A; Shinoda, Kei K; Kusuhara, Sentaro S; Nakamura, Makoto M; Iwata, Takeshi T; Tsujikawa, Akitaka A; Tsunoda, Kazushige K
Publication Date: 2021-11-18

Variant appearance in text: PS1: 828G>T
PubMed Link: 34828423
Variant Present in the following documents:
  • Main text
View BVdb publication page