Variant (rsID / SNP)

rs864621970

rs864621970 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RUNX2. Location: chromosome 6, position 45,399,652. Clinical significance in the table: Pathogenic.

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Reference-table entries

RUNX2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:45399652
Cytoband: 6p21.1
HGVS: NM_001024630.4(RUNX2):c.476G>A (p.Gly159Asp)
Allele change: Missense_G159D

Associated conditions / phenotypes

Cleidocranial dysostosis

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.