MLH1 c.578C>T ;(p.S193L)

Variant ID: 3-37053343-C-T

NM_000249.3(MLH1):c.578C>T;(p.S193L)

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:

Ultra-Mutation in IDH Wild-Type Glioblastomas of Patients Younger than 55 Years is Associated with Defective Mismatch Repair, Microsatellite Instability, and Giant Cell Enrichment.

Cancers
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Piredda, Maria Liliana ML; Caffo, Maria M; Cardali, Salvatore Massimiliano SM; Germanò, Antonino A; Cingarlini, Sara S; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2019-08-30

Variant appearance in text: MLH1: 578C>T; Ser193Leu; rs63751480
PubMed Link: 31480372
Variant Present in the following documents:
  • Main text
  • cancers-11-01279-s001.xlsx, sheet 2
  • cancers-11-01279.pdf
View BVdb publication page