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APC c.3758del ;(p.S1253Lfs*12)
Variant ID: 5-112175049-TC-T
NM_000038.5(
APC
):c.3758del;(p.S1253Lfs*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:
Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas.
Neuro-Oncology
Surun, Aurore A; Varlet, Pascale P; Brugières, Laurence L; Lacour, Brigitte B; Faure-Conter, Cécile C; Leblond, Pierre P; Bertozzi-Salomon, Anne-Isabelle AI; Berger, Claire C; André, Nicolas N; Sariban, Eric E; Raimbault, Sandra S; Prieur, Fabienne F; Desseigne, Françoise F; Zattara, Hélène H; Guimbaud, Rosine R; Polivka, Marc M; Delisle, Marie-Bernadette MB; Vasiljevic, Alexandre A; Maurage, Claude-Alain CA; Figarella-Branger, Dominique D; Coulet, Florence F; Guerrini-Rousseau, Léa L; Alapetite, Claire C; Dufour, Christelle C; Colas, Chrystelle C; Doz, François F; Bourdeaut, Franck F
Publication Date: 2020-01-11
Variant appearance in text: APC: 3758del; Ser1253Leufs*12
PubMed Link:
31504825
Variant Present in the following documents:
Main text
View BVdb publication page