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NF1 c.139T>C ;(p.S47P)
Variant ID: 17-29483079-T-C
NM_001042492.2(
NF1
):c.139T>C;(p.S47P)
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:
Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.
Plos Genetics
Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S
Publication Date: 2016-12
Variant appearance in text: NF1: 139T>C; S47P
PubMed Link:
27997549
Variant Present in the following documents:
pgen.1006501.s002.xlsx, sheet 1
View BVdb publication page