STN1 Chromosome 10
STN1 subunit of CST complex
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What This Gene Does
OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]
Gene Info
Gene Group
CST complex
Locus Type
gene with protein product
Location
10q24.33
Ensembl
ENSG00000107960
Associated Conditions (4)
Inborn genetic diseases
STN1-related disorder
Cerebroretinal microangiopathy with calcifications and cysts 2
Brain disorder
Key Variants
RS139991163
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146867381
Conflicting classifications of pathogenicity
STN1-related disorder, STN1-related disorder
Health Risk
RS201076579
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS74157365
Conflicting classifications of pathogenicity
Cerebroretinal microangiopathy with calcifications and cysts 2, STN1-related disorder, Inborn genetic diseases
Health Risk
RS753230146
Conflicting classifications of pathogenicity
Brain disorder, Brain disorder
Health Risk
RS758380334
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057519583
Pathogenic
Cerebroretinal microangiopathy with calcifications and cysts 2, Cerebroretinal microangiopathy with calcifications and cysts 2
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139991163 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146867381 | Health Risk | Conflicting classifications of pathogenicity | STN1-related disorder, STN1-related disorder |
| RS201076579 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS74157365 | Health Risk | Conflicting classifications of pathogenicity | Cerebroretinal microangiopathy with calcifications and cysts 2, STN1-related disorder, Inborn genetic diseases |
| RS753230146 | Health Risk | Conflicting classifications of pathogenicity | Brain disorder, Brain disorder |
| RS758380334 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057519583 | Health Risk | Pathogenic | Cerebroretinal microangiopathy with calcifications and cysts 2, Cerebroretinal microangiopathy with calcifications and cysts 2 |