MASTL Chromosome 10
Microtubule associated serine/threonine kinase like
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What This Gene Does
This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Microtubule associated serine/threonine kinase family
Locus Type
gene with protein product
Location
10p12.1
Ensembl
ENSG00000120539
Associated Conditions (2)
Thrombocytopenia
MASTL-related disorder
Key Variants
RS201425706
Conflicting classifications of pathogenicity
Thrombocytopenia, Thrombocytopenia
Health Risk
RS369253474
Conflicting classifications of pathogenicity
Thrombocytopenia, Thrombocytopenia
Health Risk
RS41282224
Conflicting classifications of pathogenicity
Thrombocytopenia, MASTL-related disorder, Thrombocytopenia
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201425706 | Health Risk | Conflicting classifications of pathogenicity | Thrombocytopenia, Thrombocytopenia |
| RS369253474 | Health Risk | Conflicting classifications of pathogenicity | Thrombocytopenia, Thrombocytopenia |
| RS41282224 | Health Risk | Conflicting classifications of pathogenicity | Thrombocytopenia, MASTL-related disorder, Thrombocytopenia |