MLH1 c.129del ;(p.K43Nfs*7)

Variant ID: 3-37038118-CA-C

NM_000249.3(MLH1):c.129del;(p.K43Nfs*7)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.

Oncotarget
Porkka, Noora K NK; Olkinuora, Alisa A; Kuopio, Teijo T; Ahtiainen, Maarit M; Eldfors, Samuli S; Almusa, Henrikki H; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P
Publication Date: 2020-04-07

Variant appearance in text: MLH1: 129delA; Lys43fs
PubMed Link: 32292574
Variant Present in the following documents:
  • oncotarget-11-1244-s002.xlsx, sheet 1
View BVdb publication page