SMAD4
This page contains an overview of the genetic variation in the SMAD4 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:
SMAD4 gene and transcript details
Gene Name
SMAD family member 4
Gene Links
Ensembl: ENSG00000141646 -
Locus Reference Genomic: LRG_318
Genomic Location
Chromosome 18 : 48,573,417 - 48,604,837 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1656 bases) | Protein (552 aa) |
|---|---|---|
 |
ENST00000342988 | ENSP00000341551 |
 |
LRG_318t1 | LRG_318p1 |
 |
NM_005359.5 | |
 |
Q13485 |
Summary of SMAD4 in Cardiomyopathies
SMAD4 variants in ExAC
Details of the protein-altering SMAD4 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 | 87 | 0.00109 |
| Truncating | 2 | 0.00002 |
| Missense | 65 | 0.00088 |
| Inframe | 0 | 0.00000 |
| Splice Site | 20 | 0.00019 |