NF1 c.2031_2089del ;(p.I679*)

Variant ID: 17-29553482-CCCCGATTTGCCGACAAGCCCAGACCAAACTAGAAGTGGCCCTGTACATGTTTCTGTGGA-C

NM_001042492.2(NF1):c.2031_2089del;(p.I679*)

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:

A highly sensitive genetic protocol to detect NF1 mutations.

The Journal Of Molecular Diagnostics : Jmd
Valero, María Carmen MC; Martín, Yolanda Y; Hernández-Imaz, Elisabete E; Marina Hernández, Alba A; Meleán, Germán G; Valero, Ana María AM; Javier Rodríguez-Álvarez, Francisco F; Tellería, Dolores D; Hernández-Chico, Concepción C
Publication Date: 2011-03

Variant appearance in text: NF1: 2031_2093del; Pro678_Pro698del
PubMed Link: 21354044
Variant Present in the following documents:
  • Main text
View BVdb publication page