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ATM c.4441_4442delinsAA ;(p.S1481N)
Variant ID: 11-108163350-TC-AA
NM_000051.3(
ATM
):c.4441_4442delinsAA;(p.S1481N)
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:
Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B.
Endocrine Connections
Cardot Bauters, Catherine C; Leteurtre, Emmanuelle E; Carnaille, Bruno B; Do Cao, Christine C; Espiard, Stéphanie S; Penven, Malo M; Destailleur, Evelyne E; Szuster, Isabelle I; Lovecchio, Tonio T; Leclerc, Julie J; Frénois, Fredéric F; Esquivel, Emmanuel E; Dahia, Patricia L M PLM; Ait-Yahya, Emilie E; Crépin, Michel M; Pigny, Pascal P
Publication Date: 2020-10
Variant appearance in text: ATM: Ser1481Asn
PubMed Link:
33112832
Variant Present in the following documents:
Main text
EC-20-0460.pdf
View BVdb publication page