Variant (rsID / SNP)

rs16830693

rs16830693 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPL. Location: chromosome 1, position 43,805,240. Clinical significance in the table: Benign.

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Reference-table entries

MPLBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:43805240
Cytoband: 1p34.2
HGVS: NM_005373.3(MPL):c.690A>G (p.Glu230=)
Allele change: Synonymous_E230E

Associated conditions / phenotypes

Congenital amegakaryocytic thrombocytopenia|Thrombocythemia 1|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.