PSEN1 c.515T>G ;(p.L172W)

Variant ID: 14-73653595-T-G

NM_000021.3(PSEN1):c.515T>G;(p.L172W)

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:

The Genetics of Alzheimer's Disease in the Chinese Population.

International Journal Of Molecular Sciences
Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH
Publication Date: 2020-03-30

Variant appearance in text: PSEN1: L172W
PubMed Link: 32235595
Variant Present in the following documents:
  • Main text
  • ijms-21-02381.pdf
View BVdb publication page