NF1 c.7448_7457del ;(p.P2483Rfs*3)

Variant ID: 17-29677327-CCTTCCTATAG-C

NM_001042492.2(NF1):c.7448_7457del;(p.P2483Rfs*3)

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:

Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1.

Bmc Medical Genetics
Chai, Peiwei P; Luo, Yingxiu Y; Zhou, Chuandi C; Wang, Yefei Y; Fan, Xianqun X; Jia, Renbing R
Publication Date: 2019-09-18

Variant appearance in text: NF1: 7448_7457del; P2483fs
PubMed Link: 31533651
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_877.pdf
  • 12881_2019_877_MOESM1_ESM.xls, sheet 1
View BVdb publication page