MSH6 c.2246G>C ;(p.G749A)

Variant ID: 2-48027368-G-C

NM_000179.2(MSH6):c.2246G>C;(p.G749A)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.

Plos One
Liu, Yanqun Y; Chew, Min Hoe MH; Goh, Xue Wei XW; Tan, Soo Yong SY; Loi, Carol Tien Tau CT; Tan, Yuen Ming YM; Law, Hai Yang HY; Koh, Poh Koon PK; Tang, Choong Leong CL
Publication Date: 2014

Variant appearance in text: MSH6: 2246G>C; Gly749Ala
PubMed Link: 24710284
Variant Present in the following documents:
  • Main text
  • pone.0094170.pdf
View BVdb publication page