Variant (rsID / SNP)

rs104893989

rs104893989 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RUNX2. Location: chromosome 6, position 45,399,700. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RUNX2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:45399700
Cytoband: 6p21.1
HGVS: NM_001024630.4(RUNX2):c.524T>G (p.Met175Arg)
Allele change: Missense_M175R

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.