View TGFB3 gene homepage - Loeys-Dietz Syndrome Mutation Database

Loeys-Dietz Syndrome Mutation Database

transforming growth factor, beta 3 (TGFB3)

LOVD v.3.0 Build 16 [ Current LOVD status ]
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Curators: Bart Loeys and Giada Tortora

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General information
Gene symbol	TGFB3
Gene name	transforming growth factor, beta 3
Chromosome	14
Chromosomal band	q24
Imprinted	Not imprinted
Genomic reference	LRG_399
Transcript reference	NM_003239.3
Associated with diseases	LDS5
Citation reference(s)	-
Curators (2)	Bart Loeys and Giada Tortora
Total number of public variants reported	53
Unique public DNA variants reported	18
Individuals with public variants	53
Hidden variants	0
Date created	September 21, 2014
Date last updated	April 26, 2018
Version	TGFB3:180426

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	-
Entrez Gene	7043
PubMed articles	TGFB3
OMIM - Gene	190230
OMIM - Diseases	LDS5 (Loeys-Dietz syndrome, type 5)

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
00000013	14	transforming growth factor beta 3	NM_003239.3	NP_003230.1	53

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