MLH1 c.333_334del ;(p.H112Cfs*9)

Variant ID: 3-37045916-GCT-G

NM_000249.3(MLH1):c.333_334del;(p.H112Cfs*9)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

European Journal Of Human Genetics : Ejhg
McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER
Publication Date: 2022-03

Variant appearance in text: MLH1: 333_334delTC
PubMed Link: 34983940
Variant Present in the following documents:
  • 41431_2021_1013_MOESM1_ESM.pdf
View BVdb publication page



Editorial: Using Cancer 'Omics' to Understand Cancer.

Frontiers In Oncology
Dunn, Barbara K BK; Meerzaman, Daoud D
Publication Date: 2020

Variant appearance in text: MLH1: 333_334delTC
PubMed Link: 32850349
Variant Present in the following documents:
  • Main text
  • fonc-10-01201.pdf
View BVdb publication page



A Pediatric Case of Glioblastoma Multiforme Associated With a Novel Germline p.His112CysfsTer9 Mutation in the MLH1 Gene Accompanied by a p.Arg283Cys Mutation in the TP53 Gene: A Case Report.

Frontiers In Genetics
Stajkovska, Aleksandra A; Mehandziska, Sanja S; Rosalia, Rodney R; Stavrevska, Margarita M; Janevska, Marija M; Markovska, Martina M; Kungulovski, Ivan I; Mitrev, Zan Z; Kungulovski, Goran G
Publication Date: 2019

Variant appearance in text: MLH1: 333_334delTC
PubMed Link: 31749828
Variant Present in the following documents:
  • Main text
  • fgene-10-00952.pdf
View BVdb publication page



Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Molecular Genetics & Genomic Medicine
Sjursen, Wenche W; McPhillips, Mary M; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2016-03

Variant appearance in text: MLH1: 333_334delTC; His112Cysfs*9
PubMed Link: 27064304
Variant Present in the following documents:
  • Main text
  • MGG3-4-223.pdf
View BVdb publication page