PSEN1 c.688_689delinsGC ;(p.S230A)

Variant ID: 14-73659491-AG-GC

NM_000021.3(PSEN1):c.688_689delinsGC;(p.S230A)

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:

Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Sun, Linfeng L; Zhou, Rui R; Yang, Guanghui G; Shi, Yigong Y
Publication Date: 2017-01-24

Variant appearance in text: PS1: S230A
PubMed Link: 27930341
Variant Present in the following documents:
  • Main text
View BVdb publication page