Variant (rsID / SNP)

rs74315450

rs74315450 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RUNX1. Location: chromosome 21, position 36,231,782. Clinical significance in the table: Pathogenic.

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Reference-table entries

RUNX1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:36231782
Cytoband: 21q22.12
HGVS: NM_001754.5(RUNX1):c.602G>A (p.Arg201Gln)
Allele change: Missense_R201Q

Associated conditions / phenotypes

Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

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.