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Variant (rsID / SNP)

rs141311765

MPL

rs141311765 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPL. Location: chromosome 1, position 43,805,698. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MPLConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:43805698
Cytoband
1p34.2
HGVS
NM_005373.3(MPL):c.754T>C (p.Tyr252His)
Allele change
Missense_Y252H

Associated conditions / phenotypes

Congenital amegakaryocytic thrombocytopenia|Congenital amegakaryocytic thrombocytopenia|Essential thrombocythemia

Public references

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