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NF1 c.2338A>C ;(p.T780P)
Variant ID: 17-29554553-A-C
NM_001042492.2(
NF1
):c.2338A>C;(p.T780P)
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: Thr780Pro
PubMed Link:
22155606
Variant Present in the following documents:
Main text
1479-7364-5-6-623.pdf
View BVdb publication page
Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.
Human Mutation
Garcia-Linares, Carles C; Fernández-Rodríguez, Juana J; Terribas, Ernest E; Mercadé, Jaume J; Pros, Eva E; Benito, Llúcia L; Benavente, Yolanda Y; Capellà, Gabriel G; Ravella, Anna A; Blanco, Ignacio I; Kehrer-Sawatzki, Hildegard H; Lázaro, Conxi C; Serra, Eduard E
Publication Date: 2011-01
Variant appearance in text: NF1: 2338A>C
PubMed Link:
21031597
Variant Present in the following documents:
Main text
View BVdb publication page