NF1 c.2273_2274insT ;(p.R758Sfs*10)

Variant ID: 17-29554257-G-GT

NM_001042492.2(NF1):c.2273_2274insT;(p.R758Sfs*10)

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:

Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients.

Cancers
Sorrentino, Ugo U; Bellonzi, Silvia S; Mozzato, Chiara C; Brasson, Valeria V; Toldo, Irene I; Parrozzani, Raffaele R; Clementi, Maurizio M; Cassina, Matteo M; Trevisson, Eva E
Publication Date: 2021-12-17

Variant appearance in text: NF1: 2273_2274insT; Arg758Serfs*10
PubMed Link: 34944956
Variant Present in the following documents:
  • cancers-13-06336.pdf
View BVdb publication page