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PSEN1 c.658C>T ;(p.R220*)
Variant ID: 14-73659461-C-T
NM_000021.3(
PSEN1
):c.658C>T;(p.R220*)
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:
Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants.
Orphanet Journal Of Rare Diseases
Liu, Keqiang K; Xu, Wenshuai W; Tian, Xinlun X; Xiao, Meng M; Zhao, Xinyue X; Zhang, Qianli Q; Qu, Tao T; Song, Jiaxing J; Liu, Yaping Y; Xu, Kai-Feng KF; Zhang, Xue X
Publication Date: 2019-10-15
Variant appearance in text: PS1: 658C>T
PubMed Link:
31615547
Variant Present in the following documents:
Main text
View BVdb publication page