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Variant (rsID / SNP)

rs147359883

RUNX2

rs147359883 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RUNX2. Location: chromosome 6, position 45,399,707. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RUNX2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:45399707
Cytoband
6p21.1
HGVS
NM_001024630.4(RUNX2):c.531C>G (p.Asn177Lys)
Allele change
Missense_N177K

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.