MSH6 c.1943del ;(p.S648Mfs*6)

Variant ID: 2-48027065-AG-A

NM_000179.2(MSH6):c.1943del;(p.S648Mfs*6)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: MSH6: 1943del; Ser648Metfs
PubMed Link: 24689082
Variant Present in the following documents:
  • Main text
  • mgg30002-0186.pdf
View BVdb publication page



Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.

Journal Of Medical Genetics
Sjursen, Wenche W; Haukanes, Bjørn Ivar BI; Grindedal, Eli Marie EM; Aarset, Harald H; Stormorken, Astrid A; Engebretsen, Lars F LF; Jonsrud, Christoffer C; Bjørnevoll, Inga I; Andresen, Per Arne PA; Ariansen, Sarah S; Lavik, Liss Anne S LA; Gilde, Bodil B; Bowitz-Lothe, Inger Marie IM; Maehle, Lovise L; Møller, Pål P
Publication Date: 2010-09

Variant appearance in text: MSH6: 1943delG
PubMed Link: 20587412
Variant Present in the following documents:
  • Main text
  • jmedgenet77677.pdf
View BVdb publication page