Variant (rsID / SNP)

rs148434485

rs148434485 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPL. Location: chromosome 1, position 43,803,817. Clinical significance in the table: Pathogenic.

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Reference-table entries

MPLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:43803817
Cytoband: 1p34.2
HGVS: NM_005373.3(MPL):c.127C>T (p.Arg43Ter)
Allele change: Nonsense_R43X

Associated conditions / phenotypes

Congenital amegakaryocytic thrombocytopenia|MPL-Related Disorders|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.