MLH1 c.442A>C ;(p.T148P)

Variant ID: 3-37048543-A-C

NM_000249.3(MLH1):c.442A>C;(p.T148P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


InSiGHT 2022 Abstract Publishing and Best Abstract Awards.

Familial Cancer
Publication Date: 2022-10

Variant appearance in text: MLH1: T148P
PubMed Link: 36260238
Variant Present in the following documents:
  • 10689_2022_Article_312.pdf
View BVdb publication page



Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients.

Gynecologic Oncology
Hampel, Heather H; Pearlman, Rachel R; de la Chapelle, Albert A; Pritchard, Colin C CC; Zhao, Weiqiang W; Jones, Dan D; Yilmaz, Ahmet A; Chen, Wei W; Frankel, Wendy L WL; Suarez, Adrian A AA; Cosgrove, Casey C; Backes, Floor F; Copeland, Larry L; Fowler, Jeffrey J; O'Malley, David D; Salani, Ritu R; McElroy, Joseph P JP; Stanich, Peter P PP; Goodfellow, Paul P; Cohn, David E DE
Publication Date: 2021-01

Variant appearance in text: MLH1: 442A>C
PubMed Link: 33393477
Variant Present in the following documents:
  • Main text
View BVdb publication page