MSH6 c.1337A>G ;(p.E446G)

Variant ID: 2-48026459-A-G

NM_000179.2(MSH6):c.1337A>G;(p.E446G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Olkinuora, Alisa A; Nieminen, Taina T TT; Mårtensson, Emma E; Rohlin, Anna A; Ristimäki, Ari A; Koskenvuo, Laura L; Lepistö, Anna A; , ; Gebre-Medhin, Samuel S; Nordling, Margareta M; Peltomäki, Päivi P
Publication Date: 2019-08

Variant appearance in text: MSH6: 1337A>G
PubMed Link: 30573798
Variant Present in the following documents:
  • Main text
  • 41436_2018_Article_405.pdf
View BVdb publication page