MLH1 c.1275del ;(p.R425Sfs*66)

Variant ID: 3-37067362-AG-A

NM_000249.3(MLH1):c.1275del;(p.R425Sfs*66)

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 rare large duplication of MLH1 identified in Lynch syndrome.

Hereditary Cancer In Clinical Practice
Kumar, Abhishek A; Paramasivam, Nagarajan N; Bandapalli, Obul Reddy OR; Schlesner, Matthias M; Chen, Tianhui T; Sijmons, Rolf R; Dymerska, Dagmara D; Golebiewska, Katarzyna K; Kuswik, Magdalena M; Lubinski, Jan J; Hemminki, Kari K; Försti, Asta A
Publication Date: 2021-01-19

Variant appearance in text: MLH1: 1274delG; Arg425Serfs*66
PubMed Link: 33468175
Variant Present in the following documents:
  • Main text
  • 13053_2021_Article_167.pdf
View BVdb publication page