Bibliome.ai browser hg19
Search
About
Stats
FAQ
NF1 c.6762_6783del ;(p.C2254Wfs*4)
Variant ID: 17-29665100-GTATTAGCAAACGAGTGTCTCAT-G
NM_001042492.2(
NF1
):c.6762_6783del;(p.C2254Wfs*4)
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:
Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.
Genes
Bianchessi, Donatella D; Ibba, Maria Cristina MC; Saletti, Veronica V; Blasa, Stefania S; Langella, Tiziana T; Paterra, Rosina R; Cagnoli, Giulia Anna GA; Melloni, Giulia G; Scuvera, Giulietta G; Natacci, Federica F; Cesaretti, Claudia C; Finocchiaro, Gaetano G; Eoli, Marica M
Publication Date: 2020-06-19
Variant appearance in text: NF1: 6762_6783del
PubMed Link:
32575496
Variant Present in the following documents:
Main text
genes-11-00671.pdf
View BVdb publication page