MLH1 c.1790_1791del ;(p.W597Yfs*12)

Variant ID: 3-37089068-TGG-T

NM_000249.3(MLH1):c.1790_1791del;(p.W597Yfs*12)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.

Cancer Genetics
Sunga, Annette Y AY; Ricker, Charité C; Espenschied, Carin R CR; Castillo, Danielle D; Melas, Marilena M; Herzog, Josef J; Bannon, Sarah S; Cruz-Correa, Marcia M; Lynch, Patrick P; Solomon, Ilana I; Gruber, Stephen B SB; Weitzel, Jeffrey N JN
Publication Date: 2017-04

Variant appearance in text: MLH1: 1790_1791del
PubMed Link: 28449805
Variant Present in the following documents:
  • Main text
View BVdb publication page