SLFN14 Chromosome 17
Schlafen family member 14
Upload your DNA to see your personal genotypes for variants in SLFN14.
What This Gene Does
The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Schlafen family
Locus Type
gene with protein product
Location
17q12
Ensembl
ENSG00000236320
Associated Conditions (5)
Inborn genetic diseases
Platelet-type bleeding disorder 20
SLFN14-related disorder
Abnormal bleeding
Thrombocytopenia
Key Variants
RS150974695
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS190500366
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS192498365
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 20, SLFN14-related disorder, Platelet-type bleeding disorder 20
Health Risk
RS753345092
Conflicting classifications of pathogenicity
Health Risk
RS774339589
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS869320715
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 20, Abnormal bleeding, Thrombocytopenia
Health Risk
RS919934942
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS869320716
Likely pathogenic
Platelet-type bleeding disorder 20, Inborn genetic diseases, Platelet-type bleeding disorder 20
Health Risk
RS2072671208
Pathogenic
Abnormal bleeding, Thrombocytopenia, Abnormal bleeding
Health Risk
RS757188030
Pathogenic
Platelet-type bleeding disorder 20, Platelet-type bleeding disorder 20
Health Risk
RS869320714
Pathogenic/Likely pathogenic
Platelet-type bleeding disorder 20, Thrombocytopenia, Abnormal bleeding
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150974695 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS190500366 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS192498365 | Health Risk | Conflicting classifications of pathogenicity | Platelet-type bleeding disorder 20, SLFN14-related disorder, Platelet-type bleeding disorder 20 |
| RS753345092 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774339589 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS869320715 | Health Risk | Conflicting classifications of pathogenicity | Platelet-type bleeding disorder 20, Abnormal bleeding, Thrombocytopenia |
| RS919934942 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS869320716 | Health Risk | Likely pathogenic | Platelet-type bleeding disorder 20, Inborn genetic diseases, Platelet-type bleeding disorder 20 |
| RS2072671208 | Health Risk | Pathogenic | Abnormal bleeding, Thrombocytopenia, Abnormal bleeding |
| RS757188030 | Health Risk | Pathogenic | Platelet-type bleeding disorder 20, Platelet-type bleeding disorder 20 |
| RS869320714 | Health Risk | Pathogenic/Likely pathogenic | Platelet-type bleeding disorder 20, Thrombocytopenia, Abnormal bleeding |