Global Variome shared LOVD
JPH1 (junctophilin 1)
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Mridul Johari
View all genes
View JPH1 gene homepage
View graphs about the JPH1 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene JPH1
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene JPH1
View all variants in gene JPH1
Full data view for gene JPH1
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 JPH1
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene JPH1
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene JPH1
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Phenotype #0000284664
Individual ID
00391223
Associated disease
NEDBA
Diagnosis/Initial
-
Diagnosis/Definite
-
Phenotype details
Thick eyebrow, Autistic behavior, Autism with high cognitive abilities, Goiter, Long hallux, Sandal gap, Truncal obesity, Clumsiness, Highly arched eyebrow, Large earlobe
Inheritance
Unknown
Age/Examination
11y (11 years)
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Owner name
Andreas Laner
Database submission
license
Creative Commons Attribution 4.0 International
Created by
Andreas Laner
Date created
2021-11-15 11:47:53 +01:00 (CET)
Date last edited
2021-11-15 13:04:21 +01:00 (CET)
Screenscraping/webscraping (interacting with LOVD using scripts to download data) 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