Variant (rsID / SNP)

rs12731981

rs12731981 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPL. Location: chromosome 1, position 43,804,340. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MPLBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:43804340
Cytoband: 1p34.2
HGVS: NM_005373.3(MPL):c.340G>A (p.Val114Met)
Allele change: Missense_V114M

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.