Variant (rsID / SNP)
rs121912500
rs121912500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RUNX1. Location: chromosome 21, position 36,259,238. Clinical significance in the table: Likely benign.
Reference-table entries
RUNX1Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:36259238
- Cytoband
- 21q22.12
- HGVS
- NM_001754.5(RUNX1):c.253C>A (p.His85Asn)
- Allele change
- Missense_H85N
Associated conditions / phenotypes
Transient myeloproliferative disorder of Down syndrome|Leukemia, acute myeloid, m0 subtype|Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.