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MSH6 c.2216C>A ;(p.T739K)
Variant ID: 2-48027338-C-A
NM_000179.2(
MSH6
):c.2216C>A;(p.T739K)
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:
Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.
Neuro-Oncology Advances
Guerrini-Rousseau, Léa L; Varlet, Pascale P; Colas, Chrystelle C; Andreiuolo, Felipe F; Bourdeaut, Franck F; Dahan, Karin K; Devalck, Christine C; Faure-Conter, Cécile C; Genuardi, Maurizio M; Goldberg, Yael Y; Kuhlen, Michaela M; Moalla, Salma S; Opocher, Enrico E; Perez-Alonso, Vanessa V; Sehested, Astrid A; Slavc, Irene I; Unger, Sheila S; Wimmer, Katharina K; Grill, Jacques J; Brugières, Laurence L
Publication Date: 2019
Variant appearance in text: MSH6: Thr739Lys
PubMed Link:
32642664
Variant Present in the following documents:
Main text
vdz033.pdf
View BVdb publication page