NF1 c.7045dup ;(p.R2349Pfs*5)

Variant ID: 17-29667644-T-TC

NM_001042492.2(NF1):c.7045dup;(p.R2349Pfs*5)

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:

Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.

Jco Precision Oncology
MacFarland, Suzanne P SP; Zelley, Kristin K; Surrey, Lea F LF; Gallo, Daniel D; Luo, Minjie M; Raman, Pichai P; Wertheim, Gerald G; Hunger, Stephen P SP; Li, Marilyn M MM; Brodeur, Garrett M GM
Publication Date: 2019

Variant appearance in text: NF1: 7045dup; Arg2349Profs*5
PubMed Link: 32783018
Variant Present in the following documents:
  • Main text
View BVdb publication page