MLH1 c.171del ;(p.K57Nfs*2)

Variant ID: 3-37038164-AG-A

NM_000249.3(MLH1):c.171del;(p.K57Nfs*2)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

Nature Communications
Haraldsdottir, Sigurdis S; Rafnar, Thorunn T; Frankel, Wendy L WL; Einarsdottir, Sylvia S; Sigurdsson, Asgeir A; Hampel, Heather H; Snaebjornsson, Petur P; Masson, Gisli G; Weng, Daniel D; Arngrimsson, Reynir R; Kehr, Birte B; Yilmaz, Ahmet A; Haraldsson, Stefan S; Sulem, Patrick P; Stefansson, Tryggvi T; Shields, Peter G PG; Sigurdsson, Fridbjorn F; Bekaii-Saab, Tanios T; Moller, Pall H PH; Steinarsdottir, Margret M; Alexiusdottir, Kristin K; Hitchins, Megan M; Pritchard, Colin C CC; de la Chapelle, Albert A; Jonasson, Jon G JG; Goldberg, Richard M RM; Stefansson, Kari K
Publication Date: 2017-05-03

Variant appearance in text: MLH1: 171del; K57Nfs*2
PubMed Link: 28466842
Variant Present in the following documents:
  • Main text
  • ncomms14755.pdf
View BVdb publication page