MLH1 c.1265_1266delinsAG ;(p.G422E)

Variant ID: 3-37067354-GC-AG

NM_000249.3(MLH1):c.1265_1266delinsAG;(p.G422E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Unexplained mismatch repair deficiency: Case closed.

Hgg Advances
Eikenboom, Ellis L EL; Moen, Sarah S; van Leeuwen, Lotte L; Geurts-Giele, Willemina R R WRR; Tops, Carli M J CMJ; van Ham, Tjakko J TJ; Dinjens, Winand N M WNM; Dubbink, Hendrikus J HJ; Spaander, Manon C W MCW; Wagner, Anja A
Publication Date: 2023-01-12

Variant appearance in text: MLH1: Gly422Glu
PubMed Link: 36624813
Variant Present in the following documents:
  • mmc2.pdf
  • mmc1.pdf
View BVdb publication page



Universal Screening of Gastrointestinal Malignancies for Mismatch Repair Deficiency at Stanford.

Jnci Cancer Spectrum
Abrha, Aser A; Shukla, Navika D ND; Hodan, Rachel R; Longacre, Teri T; Raghavan, Shyam S; Pritchard, Colin C CC; Fisher, George G; Ford, James J; Haraldsdottir, Sigurdis S
Publication Date: 2020-10

Variant appearance in text: MLH1: Gly422Glu
PubMed Link: 33225206
Variant Present in the following documents:
  • Main text
  • pkaa054.pdf
View BVdb publication page