Global Variome shared LOVD
GABRA1 (gamma-aminobutyric acid (GABA) A receptor, ...)
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Bernt Popp
View all genes
View GABRA1 gene homepage
View graphs about the GABRA1 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene GABRA1
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene GABRA1
View all variants in gene GABRA1
Full data view for gene GABRA1
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 GABRA1
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene GABRA1
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene GABRA1
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Phenotype #0000237224
Individual ID
00312095
Associated disease
?
Diagnosis/Initial
-
Diagnosis/Definite
-
Phenotype details
patent ductus arteriosus, feeding difficulties in infancy, deeply set eye, hypertelorism, small for gestational age, cleft palate, frontal bossing, micrognathia, clinodactyly 5th finger, muscular hypotonia, aphasia, intellectual disability
Inheritance
Unknown
Age/Examination
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Tumor/MSI
-
Diagnosis/Criteria
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2020-09-30 12:05:07 +02:00 (CEST)
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