PSEN1 c.929_930insTT ;(p.K311Sfs*39)

Variant ID: 14-73673154-C-CTT

NM_000021.3(PSEN1):c.929_930insTT;(p.K311Sfs*39)

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: 929_930insTT
PubMed Link: 31615547
Variant Present in the following documents:
  • Main text
View BVdb publication page