Global Variome shared LOVD
BMPR1B (bone morphogenetic protein receptor, type IB)
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Petra Seemann
View all genes
View BMPR1B gene homepage
View graphs about the BMPR1B gene database
Create a new gene entry
View all transcripts
View all transcripts of gene BMPR1B
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene BMPR1B
View all variants in gene BMPR1B
Full data view for gene BMPR1B
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 BMPR1B
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene BMPR1B
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene BMPR1B
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Phenotype #0000055168
Individual ID
00075393
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