PSEN1 c.600C>T ;(p.L200=)

Variant ID: 14-73659403-C-T

NM_000021.3(PSEN1):c.600C>T;(p.L200=)

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:

A thorough assessment of benign genetic variability in GRN and MAPT.

Human Mutation
Guerreiro, Rita J RJ; Washecka, Nicole N; Hardy, John J; Singleton, Andrew A
Publication Date: 2010-02

Variant appearance in text: PSEN1: 600C>T
PubMed Link: 20020531
Variant Present in the following documents:
  • Main text
View BVdb publication page