NF1 c.2283del ;(p.L762Cfs*2)

Variant ID: 17-29554267-CA-C

NM_001042492.2(NF1):c.2283del;(p.L762Cfs*2)

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:

Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1.

Molecular Genetics & Genomic Medicine
Chen, Linlin L; Xue, Feng F; Xu, Jia J; He, Jinwei J; Fu, Wenzhen W; Zhang, Zhenlin Z; Kang, Qinglin Q
Publication Date: 2019-09

Variant appearance in text: NF1: 2283delA; Leu762Cysfs*2
PubMed Link: 31347283
Variant Present in the following documents:
  • Main text
  • MGG3-7-e904.pdf
View BVdb publication page