MLH1 c.875_878del ;(p.L292Pfs*4)

Variant ID: 3-37059081-CTGTA-C

NM_000249.3(MLH1):c.875_878del;(p.L292Pfs*4)

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:

HNPCC: six new pathogenic mutations.

Bmc Medical Genetics
Kunstmann, Erdmute E; Vieland, Judith J; Brasch, Frank E FE; Hahn, Stephan A SA; Epplen, Joerg T JT; Schulmann, Karsten K; Schmiegel, Wolff W
Publication Date: 2004-06-24

Variant appearance in text: MLH1: L292fsX298
PubMed Link: 15217520
Variant Present in the following documents:
  • Main text
  • 1471-2350-5-16.pdf
View BVdb publication page