TGFBR3
This page contains an overview of the genetic variation in the TGFBR3 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:
TGFBR3 gene and transcript details
Gene Name
transforming growth factor, beta receptor III
Gene Links
Ensembl: ENSG00000069702 -
Locus Reference Genomic:
Genomic Location
Chromosome 1 : 92,149,296 - 92,327,088 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (2553 bases) | Protein (851 aa) |
|---|---|---|
 |
ENST00000212355 | ENSP00000212355 |
 |
||
 |
NM_003243.4 | |
 |
Q03167 |
Summary of TGFBR3 in Cardiomyopathies
TGFBR3 variants in ExAC
Details of the protein-altering TGFBR3 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 | 296 | 0.00492 |
| Truncating | 11 | 0.00014 |
| Missense | 253 | 0.00425 |
| Inframe | 1 | 0.00001 |
| Splice Site | 31 | 0.00052 |