MLH1 c.1463del ;(p.K488Rfs*3)

Variant ID: 3-37070325-GA-G

NM_000249.3(MLH1):c.1463del;(p.K488Rfs*3)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: MLH1: 1463delA; Lys488Argfs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer.

Gut
Mueller-Koch, Y Y; Vogelsang, H H; Kopp, R R; Lohse, P P; Keller, G G; Aust, D D; Muders, M M; Gross, M M; Daum, J J; Schiemann, U U; Grabowski, M M; Scholz, M M; Kerker, B B; Becker, I I; Henke, G G; Holinski-Feder, E E
Publication Date: 2005-12

Variant appearance in text: MLH1: 1463delA
PubMed Link: 15955785
Variant Present in the following documents:
  • Main text
View BVdb publication page