MLH1 c.688G>A ;(p.E230K)

Variant ID: 3-37055933-G-A

NM_000249.3(MLH1):c.688G>A;(p.E230K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Npj Genomic Medicine
Cheema, Huma H; Bertoli-Avella, Aida M AM; Skrahina, Volha V; Anjum, Muhammad Nadeem MN; Waheed, Nadia N; Saeed, Anjum A; Beetz, Christian C; Perez-Lopez, Jordi J; Rocha, Maria Eugenia ME; Alawbathani, Salem S; Pereira, Catarina C; Hovakimyan, Marina M; Patric, Irene Rosita Pia IRP; Paknia, Omid O; Ameziane, Najim N; Cozma, Claudia C; Bauer, Peter P; Rolfs, Arndt A
Publication Date: 2020

Variant appearance in text: MLH1: 688G>A; Glu230Lys
PubMed Link: 33083013
Variant Present in the following documents:
  • 41525_2020_150_MOESM1_ESM.pdf
View BVdb publication page