NF1 c.3004C>G ;(p.L1002V)

Variant ID: 17-29557291-C-G

NM_001042492.2(NF1):c.3004C>G;(p.L1002V)

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:

Targeted next generation sequencing of mucosal melanomas identifies frequent NF1 and RAS mutations.

Oncotarget
Cosgarea, Ioana I; Ugurel, Selma S; Sucker, Antje A; Livingstone, Elisabeth E; Zimmer, Lisa L; Ziemer, Mirjana M; Utikal, Jochen J; Mohr, Peter P; Pfeiffer, Christiane C; Pföhler, Claudia C; Hillen, Uwe U; Horn, Susanne S; Schadendorf, Dirk D; Griewank, Klaus G KG; Roesch, Alexander A
Publication Date: 2017-06-20

Variant appearance in text: NF1: L1002V
PubMed Link: 28380455
Variant Present in the following documents:
  • Main text
  • oncotarget-08-40683.pdf
View BVdb publication page