MLH1 c.2245_2247del ;(p.L749del)

Variant ID: 3-37092118-TCTA-T

NM_000249.3(MLH1):c.2245_2247del;(p.L749del)

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 MLH1 In-Frame Deletion in a Slovenian Lynch Syndrome Family Associated with Uncommon Isolated PMS2 Loss in Tumor Tissue.

Genes
Klančar, Gašper G; Blatnik, Ana A; Šetrajčič Dragoš, Vita V; Vogrič, Vesna V; Stegel, Vida V; Blatnik, Olga O; Drev, Primož P; Gazič, Barbara B; Krajc, Mateja M; Novaković, Srdjan S
Publication Date: 2020-03-18

Variant appearance in text: MLH1: Leu749del
PubMed Link: 32197529
Variant Present in the following documents:
  • Main text
  • genes-11-00325.pdf
  • genes-11-00325-s001.pdf
View BVdb publication page