MLH1 c.1657_1659delinsTAA ;(p.T553*)

Variant ID: 3-37081775-ACC-TAA

NM_000249.3(MLH1):c.1657_1659delinsTAA;(p.T553*)

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: MLH1: Thr553X
PubMed Link: 24710284
Variant Present in the following documents:
  • Main text
  • pone.0094170.pdf
View BVdb publication page