Variant (rsID / SNP)

rs104893995

rs104893995 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RUNX2. Location: chromosome 6, position 45,399,682. 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: 6:45399682
Cytoband: 6p21.1
HGVS: NM_001024630.4(RUNX2):c.506G>C (p.Arg169Pro)
Allele change: Missense_R169P

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.