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NF1 c.1884C>G ;(p.Y628*)
Variant ID: 17-29552151-C-G
NM_001042492.2(
NF1
):c.1884C>G;(p.Y628*)
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:
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: Tyr628X
PubMed Link:
22155606
Variant Present in the following documents:
1479-7364-5-6-623.pdf
View BVdb publication page