MLH1 c.214G>C ;(p.D72H)

Variant ID: 3-37042452-G-C

NM_000249.3(MLH1):c.214G>C;(p.D72H)

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:

Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family.

Journal Of Medical Genetics
McVety, S S; Li, L L; Gordon, P H PH; Chong, G G; Foulkes, W D WD
Publication Date: 2006-02

Variant appearance in text:
PubMed Link: 15923275
Variant Present in the following documents:
  • Main text
View BVdb publication page