Global Variome shared LOVD
FBXO7 (F-box protein 7)
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Global Variome, with Curator vacancy
View all genes
View FBXO7 gene homepage
View graphs about the FBXO7 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene FBXO7
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene FBXO7
View all variants in gene FBXO7
Full data view for gene FBXO7
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene FBXO7
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene FBXO7
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene FBXO7
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Phenotype #0000157073
Individual ID
00208252
Associated disease
ataxia
Diagnosis/Initial
Progressive Cerebellar Ataxia
Diagnosis/Definite
-
Phenotype details
1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 34y, no nystagmus, dysarthria, no ataxia, Brain MRI atrophy of the cerebellum
Inheritance
Unknown
Age/Examination
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
LOVD
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2008-06-18 23:00:08 +02:00 (CEST)
Date last edited
2012-01-24 14:10:14 +01:00 (CET)
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our
APIs
to retrieve data.
Powered by
LOVD v.3.0
Build 30b
LOVD software ©2004-2024
Leiden University Medical Center
Database contents © by their respective submitters and curators