Variant (rsID / SNP)

rs202115157

rs202115157 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOX9. Location: chromosome 17, position 70,118,947. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SOX9Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:70118947
Cytoband: 17q24.3
HGVS: NM_000346.4(SOX9):c.519G>A (p.Lys173=)
Allele change: Synonymous_K173K

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.