MLH1 c.1342G>T ;(p.E448*)

Variant ID: 3-37067431-G-T

NM_000249.3(MLH1):c.1342G>T;(p.E448*)

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:

Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.

European Journal Of Human Genetics : Ejhg
Morak, Monika M; Schaefer, Kerstin K; Steinke-Lange, Verena V; Koehler, Udo U; Keinath, Susanne S; Massdorf, Trisari T; Mauracher, Brigitte B; Rahner, Nils N; Bailey, Jessica J; Kling, Christiane C; Haeusser, Tanja T; Laner, Andreas A; Holinski-Feder, Elke E
Publication Date: 2019-12

Variant appearance in text: MLH1: 1342G>T; Glu448*
PubMed Link: 31332305
Variant Present in the following documents:
  • Main text
View BVdb publication page