Bibliome.ai browser hg19
Search
About
Stats
FAQ
NF1 c.2256A>G ;(p.R752=)
Variant ID: 17-29554240-A-G
NM_001042492.2(
NF1
):c.2256A>G;(p.R752=)
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:
Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.
Cancer Research
Brems, Hilde H; Park, Caroline C; Maertens, Ophélia O; Pemov, Alexander A; Messiaen, Ludwine L; Messia, Ludwine L; Upadhyaya, Meena M; Claes, Kathleen K; Beert, Eline E; Peeters, Kristel K; Mautner, Victor V; Sloan, Jennifer L JL; Yao, Lawrence L; Lee, Chyi-Chia Richard CC; Sciot, Raf R; De Smet, Luc L; Legius, Eric E; Stewart, Douglas R DR
Publication Date: 2009-09-15
Variant appearance in text: NF1: 2256A>G
PubMed Link:
19738042
Variant Present in the following documents:
Main text
View BVdb publication page