MLH1 c.1621G>A ;(p.A541T)

Variant ID: 3-37081739-G-A

NM_000249.3(MLH1):c.1621G>A;(p.A541T)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.

International Journal Of Molecular Sciences
Caja, Fabian F; Vodickova, Ludmila L; Kral, Jan J; Vymetalkova, Veronika V; Naccarati, Alessio A; Vodicka, Pavel P
Publication Date: 2020-08-03

Variant appearance in text: MLH1: 1621G>A
PubMed Link: 32756484
Variant Present in the following documents:
  • Main text
  • ijms-21-05561.pdf
View BVdb publication page



Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families.

Cancer Medicine
Talseth-Palmer, Bente A BA; Bauer, Denis C DC; Sjursen, Wenche W; Evans, Tiffany J TJ; McPhillips, Mary M; Proietto, Anthony A; Otton, Geoffrey G; Spigelman, Allan D AD; Scott, Rodney J RJ
Publication Date: 2016-05

Variant appearance in text: MLH1: 1621G>A
PubMed Link: 26811195
Variant Present in the following documents:
  • Main text
View BVdb publication page



A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.

Molecular Genetics & Genomic Medicine
Hansen, Maren F MF; Neckmann, Ulrike U; Lavik, Liss A S LA; Vold, Trine T; Gilde, Bodil B; Toft, Ragnhild K RK; Sjursen, Wenche W
Publication Date: 2014-03

Variant appearance in text: MLH1: 1621G>A
PubMed Link: 24689082
Variant Present in the following documents:
  • Main text
  • mgg30002-0186.pdf
View BVdb publication page



Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression.

Clinical Genetics
Clendenning, M M; Macrae, F A FA; Walsh, M D MD; Walters, R J RJ; Thibodeau, S N SN; Gunawardena, S R SR; Potter, J D JD; Haile, R W RW; Gallinger, S S; , ; Hopper, J L JL; Jenkins, M A MA; Rosty, C C; Young, J P JP; Buchanan, D D DD
Publication Date: 2013-06

Variant appearance in text: MLH1: 1621G>A
PubMed Link: 23017166
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event.

Human Mutation
Ganster, Christina C; Wernstedt, Annekatrin A; Kehrer-Sawatzki, Hildegard H; Messiaen, Ludwine L; Schmidt, Konrad K; Rahner, Nils N; Heinimann, Karl K; Fonatsch, Christa C; Zschocke, Johannes J; Wimmer, Katharina K
Publication Date: 2010-05

Variant appearance in text: MLH1: 1621G>A
PubMed Link: 20186689
Variant Present in the following documents:
  • Main text
View BVdb publication page