MLH1 c.193G>A ;(p.G65S)

Variant ID: 3-37038186-G-A

NM_000249.3(MLH1):c.193G>A;(p.G65S)

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:

Complete Clinical Response in Stage IVB Endometrioid Endometrial Carcinoma after First-Line Pembrolizumab Therapy: Report of a Case with Isolated Loss of PMS2 Protein.

Case Reports In Oncology
Carvalho, Jesus Paula JP; Del Giglio, Auro A; Achatz, Maria Isabel MI; Carvalho, Filomena Marino FM
Publication Date: 2020

Variant appearance in text: MLH1: 193G>A; Gly65Ser
PubMed Link: 33082750
Variant Present in the following documents:
  • Main text
  • cro-0013-1067.pdf
View BVdb publication page