MSH2 c.1221C>A ;(p.L407=)

Variant ID: 2-47657025-C-A

NM_000251.2(MSH2):c.1221C>A;(p.L407=)

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:

Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Drost, Mark M; Lützen, Anne A; van Hees, Sandrine S; Ferreira, Daniel D; Calléja, Fabienne F; Zonneveld, José B M JB; Nielsen, Finn Cilius FC; Rasmussen, Lene Juel LJ; de Wind, Niels N
Publication Date: 2013-06-04

Variant appearance in text: MSH2: L407L
PubMed Link: 23690608
Variant Present in the following documents:
  • Main text
View BVdb publication page