STEEP1 Chromosome X
STING1 ER exit protein 1
Upload your DNA to see your personal genotypes for variants in STEEP1.
What This Gene Does
While this gene is well-supported by transcript data, no functional information on its protein products is currently available. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Gene Info
Gene Group
"Spliceosomal C complex|Spliceosomal P complex"
Locus Type
gene with protein product
Location
Xq24
Ensembl
ENSG00000018610
Associated Conditions (2)
Intellectual disability
X-linked 107
Key Variants
RS2147360775
Likely pathogenic
Intellectual disability, X-linked 107, Intellectual disability
Health Risk
RS2520581934
Likely pathogenic
Intellectual disability, X-linked 107, Intellectual disability
Health Risk
RS1188300105
Pathogenic
Intellectual disability, X-linked 107, Intellectual disability
Health Risk
RS1556220029
Pathogenic
Intellectual disability, X-linked 107, Intellectual disability
Health Risk
RS2053171807
Pathogenic
Intellectual disability, X-linked 107, Intellectual disability
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2147360775 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 107, Intellectual disability |
| RS2520581934 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 107, Intellectual disability |
| RS1188300105 | Health Risk | Pathogenic | Intellectual disability, X-linked 107, Intellectual disability |
| RS1556220029 | Health Risk | Pathogenic | Intellectual disability, X-linked 107, Intellectual disability |
| RS2053171807 | Health Risk | Pathogenic | Intellectual disability, X-linked 107, Intellectual disability |