MLH1 c.1780_1781insC ;(p.E594Afs*16)

Variant ID: 3-37089058-G-GC

NM_000249.3(MLH1):c.1780_1781insC;(p.E594Afs*16)

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:

A novel germline mutation in hMLH1 in three Korean women with endometrial cancer in a family of Lynch syndrome: case report and literature review.

Hereditary Cancer In Clinical Practice
Jung, Youn-Joon YJ; Kim, Hye Ryoun HR; Kim, Mi Kyung MK; Lee, Eun-Ju EJ
Publication Date: 2021-06-03

Variant appearance in text: MLH1: 1780_1781insC
PubMed Link: 34082788
Variant Present in the following documents:
  • Main text
  • 13053_2021_Article_185.pdf
View BVdb publication page