Variant (rsID / SNP)

rs201164283

rs201164283 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RUNX1. Location: chromosome 21, position 36,171,741. Clinical significance in the table: Benign.

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Reference-table entries

RUNX1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 21:36171741
Cytoband: 21q22.12
HGVS: NM_001754.5(RUNX1):c.824C>T (p.Pro275Leu)
Allele change: Missense_P275L

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.