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MSH6 c.1539C>G ;(p.I513M)
Variant ID: 2-48026661-C-G
NM_000179.2(
MSH6
):c.1539C>G;(p.I513M)
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:
The mutational spectrum of Lynch syndrome in cyprus.
Plos One
Loizidou, Maria A MA; Neophytou, Ioanna I; Papamichael, Demetris D; Kountourakis, Panteleimon P; Vassiliou, Vassilios V; Marcou, Yiola Y; Kakouri, Eleni E; Ioannidis, Georgios G; Philippou, Chrystalla C; Spanou, Elena E; Tanteles, George A GA; Anastasiadou, Violetta V; Hadjisavvas, Andreas A; Kyriacou, Kyriacos K
Publication Date: 2014
Variant appearance in text: MSH6: 1539C>G; Ile513Met
PubMed Link:
25133505
Variant Present in the following documents:
Main text
View BVdb publication page