NF1 c.2992T>G ;(p.Y998D)

Variant ID: 17-29557279-T-G

NM_001042492.2(NF1):c.2992T>G;(p.Y998D)

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:

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

Genes
Stella, Alessandro A; Lastella, Patrizia P; Loconte, Daria Carmela DC; Bukvic, Nenad N; Varvara, Dora D; Patruno, Margherita M; Bagnulo, Rosanna R; Lovaglio, Rosaura R; Bartolomeo, Nicola N; Serio, Gabriella G; Resta, Nicoletta N
Publication Date: 2018-04-17

Variant appearance in text: NF1: 2992T>G; Tyr998Asp
PubMed Link: 29673180
Variant Present in the following documents:
  • Main text
  • genes-09-00216.pdf
View BVdb publication page