Global Variome shared LOVD
DTNBP1 (dystrobrevin binding protein 1)
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
William (Bill) Oetting
View all genes
View DTNBP1 gene homepage
View graphs about the DTNBP1 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene DTNBP1
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene DTNBP1
View all variants in gene DTNBP1
Full data view for gene DTNBP1
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 DTNBP1
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene DTNBP1
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene DTNBP1
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Phenotype #0000055162
Individual ID
00075387
Associated disease
STGD1
Phenotype details
Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally
Diagnosis/Initial
-
Inheritance
Unknown
Diagnosis/Definite
-
Age/Examination
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
Stéphanie Cornelis
Database submission
license
Creative Commons Attribution 4.0 International
Created by
Stéphanie Cornelis
Date created
2016-02-22 12:22:09 +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