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MLH1 c.2117_2130del ;(p.G706Vfs*12)
Variant ID: 3-37091990-GGCTCCATTCCAAAC-G
NM_000249.3(
MLH1
):c.2117_2130del;(p.G706Vfs*12)
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:
Evaluation of a new panel of six mononucleotide repeat markers for the detection of DNA mismatch repair-deficient tumours.
British Journal Of Cancer
Pagin, A A; Zerimech, F F; Leclerc, J J; Wacrenier, A A; Lejeune, S S; Descarpentries, C C; Escande, F F; Porchet, N N; Buisine, M-P MP
Publication Date: 2013-05-28
Variant appearance in text: MLH1: 2117_2130del; Gly706Valfs
PubMed Link:
23652311
Variant Present in the following documents:
Main text
bjc2013213a.pdf
View BVdb publication page