MLH1 c.1289_1290insC ;(p.E430Dfs*4)

Variant ID: 3-37067378-A-AC

NM_000249.3(MLH1):c.1289_1290insC;(p.E430Dfs*4)

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:

Mismatch repair-deficient prostate cancer with parenchymal brain metastases treated with immune checkpoint blockade.

Cold Spring Harbor Molecular Case Studies
Sena, Laura A LA; Salles, Daniela C DC; Engle, Elizabeth L EL; Zhu, Qingfeng Q; Tukachinsky, Hanna H; Lotan, Tamara L TL; Antonarakis, Emmanuel S ES
Publication Date: 2021-08

Variant appearance in text: MLH1: 1289_1290insC
PubMed Link: 34140335
Variant Present in the following documents:
  • Main text
View BVdb publication page