MSH6 c.1430G>A ;(p.G477D)

Variant ID: 2-48026552-G-A

NM_000179.2(MSH6):c.1430G>A;(p.G477D)

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:

Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Martinez, Sandra L SL; Kolodner, Richard D RD
Publication Date: 2010-03-16

Variant appearance in text: MSH6: G477D
PubMed Link: 20176959
Variant Present in the following documents:
  • Main text
View BVdb publication page