NF1 c.1639G>T ;(p.E547*)

Variant ID: 17-29546134-G-T

NM_001042492.2(NF1):c.1639G>T;(p.E547*)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.

Genes
Napolitano, Filomena F; Dell'Aquila, Milena M; Terracciano, Chiara C; Franzese, Giuseppina G; Gentile, Maria Teresa MT; Piluso, Giulio G; Santoro, Claudia C; Colavito, Davide D; Patanè, Anna A; De Blasiis, Paolo P; Sampaolo, Simone S; Paladino, Simona S; Melone, Mariarosa Anna Beatrice MAB
Publication Date: 2022-06-23

Variant appearance in text: NF1: 1639G>T; Glu547*
PubMed Link: 35885913
Variant Present in the following documents:
  • genes-13-01130.pdf
View BVdb publication page


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: 1639G>T
PubMed Link: 29673180
Variant Present in the following documents:
  • Main text
  • genes-09-00216.pdf
View BVdb publication page