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NF1 c.1226_1227del ;(p.V409Afs*19)
Variant ID: 17-29528466-ATG-A
NM_001042492.2(
NF1
):c.1226_1227del;(p.V409Afs*19)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.
Human Genomics
Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M
Publication Date: 2011-10
Variant appearance in text: NF1: 1225_1226delGT
PubMed Link:
22155606
Variant Present in the following documents:
1479-7364-5-6-623.pdf
View BVdb publication page
Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.
American Journal Of Human Genetics
Maertens, Ophélia O; De Schepper, Sofie S; Vandesompele, Jo J; Brems, Hilde H; Heyns, Ine I; Janssens, Sandra S; Speleman, Frank F; Legius, Eric E; Messiaen, Ludwine L
Publication Date: 2007-08
Variant appearance in text: NF1: 1226_1227del
PubMed Link:
17668375
Variant Present in the following documents:
Main text
View BVdb publication page