Variant (rsID / SNP)

rs587778515

rs587778515 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPL. Location: chromosome 1, position 43,804,376. Clinical significance in the table: Pathogenic.

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Reference-table entries

MPLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 1:43804376
Cytoband: 1p34.2
HGVS: NM_005373.3(MPL):c.378del (p.Phe126fs)

Associated conditions / phenotypes

Congenital amegakaryocytic thrombocytopenia|Congenital amegakaryocytic thrombocytopenia|Essential thrombocythemia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.