PSEN1 c.995A>G ;(p.D332G)

Variant ID: 14-73678516-A-G

NM_000021.3(PSEN1):c.995A>G;(p.D332G)

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:

Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort.

Current Alzheimer Research
Mao, Chenhui C; Li, Jie J; Dong, Liling L; Huang, Xinying X; Lei, Dan D; Wang, Jie J; Chu, Shanshan S; Liu, Caiyan C; Peng, Bin B; Román, Gustavo C GC; Cui, Liying L; Gao, Jing J
Publication Date: 2021

Variant appearance in text: PSEN1: 995A>G; D332G
PubMed Link: 34102969
Variant Present in the following documents:
  • CAR-18-265_SD1.pdf
View BVdb publication page