TGFB1
This page contains an overview of the genetic variation in the TGFB1 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
TGFB1 gene and transcript details
Gene Name
transforming growth factor, beta 1
Gene Links
Ensembl: ENSG00000105329 -
Locus Reference Genomic:
Genomic Location
Chromosome 19 : 41,836,957 - 41,858,949 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1170 bases) | Protein (390 aa) |
|---|---|---|
 |
ENST00000221930 | ENSP00000221930 |
 |
||
 |
NM_000660.4 | |
 |
P01137 |
Summary of TGFB1 in Cardiomyopathies
TGFB1 variants in ExAC
Details of the protein-altering TGFB1 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 119 | 0.00195 |
| Truncating | 3 | 0.00003 |
| Missense | 101 | 0.00178 |
| Inframe | 1 | 0.00001 |
| Splice Site | 14 | 0.00013 |