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PSEN1 c.247_248delinsTG ;(p.I83C)
Variant ID: 14-73637664-AT-TG
NM_000021.3(
PSEN1
):c.247_248delinsTG;(p.I83C)
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:
Participation of transmembrane domain 1 of presenilin 1 in the catalytic pore structure of the γ-secretase.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Takagi, Shizuka S; Tominaga, Aya A; Sato, Chihiro C; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2010-11-24
Variant appearance in text: PS1: I83C
PubMed Link:
21106832
Variant Present in the following documents:
Main text
View BVdb publication page