Variant (rsID / SNP)

rs144824678

rs144824678 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOX9. Location: chromosome 17, position 70,118,959. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SOX9Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:70118959
Cytoband: 17q24.3
HGVS: NM_000346.4(SOX9):c.531G>A (p.Arg177=)
Allele change: Synonymous_R177R

Associated conditions / phenotypes

Camptomelic dysplasia

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.