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Variant (rsID / SNP)

rs149265851

MPL

rs149265851 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPL. Location: chromosome 1, position 43,806,166. 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
1:43806166
Cytoband
1p34.2
HGVS
NM_005373.3(MPL):c.962G>A (p.Arg321Gln)
Allele change
Missense_R321Q

Associated conditions / phenotypes

Congenital amegakaryocytic thrombocytopenia|Thrombocythemia 1|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.