MLH1 c.723A>T ;(p.K241N)

Variant ID: 3-37055968-A-T

NM_000249.3(MLH1):c.723A>T;(p.K241N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: MLH1: K241N
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



Polymerase ɛ (POLE) mutations in endometrial cancer: clinical outcomes and implications for Lynch syndrome testing.

Cancer
Billingsley, Caroline C CC; Cohn, David E DE; Mutch, David G DG; Stephens, Julie A JA; Suarez, Adrian A AA; Goodfellow, Paul J PJ
Publication Date: 2015-02-01

Variant appearance in text: MLH1: K241N
PubMed Link: 25224212
Variant Present in the following documents:
  • Main text
View BVdb publication page