Variant (rsID / SNP)
rs146249964
rs146249964 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPL. Location: chromosome 1, position 43,803,600. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
MPLPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:43803600
- Cytoband
- 1p34.2
- HGVS
- NM_005373.3(MPL):c.79+2T>A
- Allele change
- Silent
Associated conditions / phenotypes
Congenital amegakaryocytic thrombocytopenia|Congenital amegakaryocytic thrombocytopenia|Thrombocythemia 2|Myelofibrosis|Thrombocytopenia|MPL-Related Disorders|Congenital amegakaryocytic thrombocytopenia|Essential thrombocythemia|Myelofibrosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.