MLH1 c.949C>G ;(p.L317V)

Variant ID: 3-37061865-C-G

NM_000249.3(MLH1):c.949C>G;(p.L317V)

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 massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations.

Plos Genetics
Wei, Xiaomu X; Das, Jishnu J; Fragoza, Robert R; Liang, Jin J; Bastos de Oliveira, Francisco M FM; Lee, Hao Ran HR; Wang, Xiujuan X; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Lipkin, Steven M SM; Smolka, Marcus B MB; Yu, Haiyuan H
Publication Date: 2014-12

Variant appearance in text: MLH1: L317V
PubMed Link: 25502805
Variant Present in the following documents:
  • Main text
  • pgen.1004819.pdf
View BVdb publication page