Global Variome shared LOVD
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
View all genes
Create a new gene entry
View all transcripts
Create a new transcript information entry
View all variants
View all variants affecting transcripts
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
Create a new disease information entry
View available phenotype columns
View all screenings
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Phenotype #0000285421
Individual ID
00392143
Associated disease
-
Phenotype details
best corrected visual acuity right/left eye: light perception/light perception, visual field: not determined, fundus: widespread atrophy, fundus autofluorescence: pericentral hypoautofluorescenceg, optical coherence tomography: not determined
Diagnosis/Initial
rod-cone dystrophy
Inheritance
Unknown
Diagnosis/Definite
RPN-481
Age/Examination
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
LOVD
Database submission
license
Creative Commons Attribution 4.0 International
Created by
Anna Tracewska
Date created
2021-11-21 15:06:43 +01:00 (CET)
Date last edited
N/A
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