BMPR1A gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

BMPR1A (bone morphogenetic protein receptor type 1A)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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BMPR1A gene homepage

General information
Gene symbol	BMPR1A
Gene name	bone morphogenetic protein receptor type 1A
Chromosome	10
Chromosomal band	q23.2
Imprinted	Unknown
Genomic reference	LRG_298
Transcript reference	NM_004329.2
Associated with diseases	JPS
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	143
Unique public DNA variants reported	53
Individuals with public variants	169
Hidden variants	0
Date created	May 20, 2020
Date last updated	May 17, 2022
Version	BMPR1A:220517

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC	1076
Entrez Gene	657
PubMed articles	BMPR1A
OMIM - Gene	601299
OMIM - Diseases	JPS (Juvenile Polyposis Syndrome)

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000011	10	bone morphogenetic protein receptor, type IA	NM_004329.2	NP_004320.2	143

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