TSPYL1 Chromosome 6
TSPY like 1
Upload your DNA to see your personal genotypes for variants in TSPYL1.
What This Gene Does
The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009]
Gene Info
Gene Group
TSPYL family
Locus Type
gene with protein product
Location
6q22.1
Ensembl
ENSG00000189241
Associated Conditions (1)
Sudden infant death-dysgenesis of the testes syndrome
Key Variants
RS776649638
Conflicting classifications of pathogenicity
Sudden infant death-dysgenesis of the testes syndrome, Sudden infant death-dysgenesis of the testes syndrome
Health Risk
RS2534376879
Pathogenic
Sudden infant death-dysgenesis of the testes syndrome, Sudden infant death-dysgenesis of the testes syndrome
Health Risk
RS775957625
Pathogenic/Likely pathogenic
Sudden infant death-dysgenesis of the testes syndrome, Sudden infant death-dysgenesis of the testes syndrome
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS776649638 | Health Risk | Conflicting classifications of pathogenicity | Sudden infant death-dysgenesis of the testes syndrome, Sudden infant death-dysgenesis of the testes syndrome |
| RS2534376879 | Health Risk | Pathogenic | Sudden infant death-dysgenesis of the testes syndrome, Sudden infant death-dysgenesis of the testes syndrome |
| RS775957625 | Health Risk | Pathogenic/Likely pathogenic | Sudden infant death-dysgenesis of the testes syndrome, Sudden infant death-dysgenesis of the testes syndrome |