NF1 c.738del ;(p.E247Kfs*34)

Variant ID: 17-29509533-CA-C

NM_001042492.2(NF1):c.738del;(p.E247Kfs*34)

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:

Neovascular glaucoma in a pediatric patient with neurofibromatosis type 1: a case report.

Bmc Ophthalmology
Liu, Sha S; Ran, Li L; Qi, Dongmei D; Meng, Xiaohong X; Yu, Tao T
Publication Date: 2020-04-28

Variant appearance in text: NF1: 738del
PubMed Link: 32345252
Variant Present in the following documents:
  • Main text
View BVdb publication page