Variant (rsID / SNP)

rs121913611

rs121913611 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPL. Location: chromosome 1, position 43,805,713. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MPLPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:43805713
Cytoband: 1p34.2
HGVS: NM_005373.3(MPL):c.769C>T (p.Arg257Cys)
Allele change: Missense_R257C

Associated conditions / phenotypes

Congenital amegakaryocytic thrombocytopenia|Essential thrombocythemia|Congenital amegakaryocytic thrombocytopenia

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.