MLH1 c.1755dup ;(p.A586Cfs*7)

Variant ID: 3-37089031-C-CT

NM_000249.3(MLH1):c.1755dup;(p.A586Cfs*7)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of Lynch syndrome risk variants in the Romanian population.

Journal Of Cellular And Molecular Medicine
Iordache, Paul D PD; Mates, Dana D; Gunnarsson, Bjarni B; Eggertsson, Hannes P HP; Sulem, Patrick P; Benonisdottir, Stefania S; Csiki, Irma Eva IE; Rascu, Stefan S; Radavoi, Daniel D; Ursu, Radu R; Staicu, Catalin C; Calota, Violeta V; Voinoiu, Angelica A; Jinga, Mariana M; Rosoga, Gabriel G; Danau, Razvan R; Sima, Sorin Cristian SC; Badescu, Daniel D; Suciu, Nicoleta N; Radoi, Viorica V; Mates, Ioan Nicolae IN; Dobra, Mihai M; Nicolae, Camelia C; Kristjansdottir, Sigrun S; Jonasson, Jon G JG; Manolescu, Andrei A; Arnadottir, Gudny G; Jensson, Brynjar B; Jonasdottir, Aslaug A; Sigurdsson, Asgeir A; le Roux, Louise L; Johannsdottir, Hrefna H; Rafnar, Thorunn T; Halldorsson, Bjarni V BV; Jinga, Viorel V; Stefansson, Kari K
Publication Date: 2018-12

Variant appearance in text: MLH1: 1755dupT
PubMed Link: 30324682
Variant Present in the following documents:
  • Main text
  • JCMM-22-6068.pdf
View BVdb publication page



BRAFV600E immunohistochemistry facilitates universal screening of colorectal cancers for Lynch syndrome.

The American Journal Of Surgical Pathology
Toon, Christopher W CW; Walsh, Michael D MD; Chou, Angela A; Capper, David D; Clarkson, Adele A; Sioson, Loretta L; Clarke, Stephen S; Mead, Scott S; Walters, Rhiannon J RJ; Clendenning, Mark M; Rosty, Christophe C; Young, Joanne P JP; Win, Aung Ko AK; Hopper, John L JL; Crook, Ashley A; von Deimling, Andreas A; Jenkins, Mark A MA; Buchanan, Daniel D DD; Gill, Anthony J AJ
Publication Date: 2013-10

Variant appearance in text: MLH1: Ala586fs
PubMed Link: 23797718
Variant Present in the following documents:
  • Main text
View BVdb publication page