SOX9
This page contains an overview of the genetic variation in the SOX9 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:
SOX9 gene and transcript details
Gene Name
SRY (sex determining region Y)-box 9
Gene Links
Ensembl: ENSG00000125398 -
Locus Reference Genomic:
Genomic Location
Chromosome 17 : 70,117,533 - 70,120,528 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1527 bases) | Protein (509 aa) |
|---|---|---|
 |
ENST00000245479 | ENSP00000245479 |
 |
||
 |
NM_000346.3 | |
 |
P48436 |
Summary of SOX9 in Cardiomyopathies
SOX9 variants in ExAC
Details of the protein-altering SOX9 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 | 144 | 0.00231 |
| Truncating | 0 | nan |
| Missense | 131 | 0.00210 |
| Inframe | 2 | 0.00001 |
| Splice Site | 11 | 0.00020 |