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Variant (rsID / SNP)

rs104894139

CYP17A1

rs104894139 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP17A1. Location: chromosome 10, position 104,592,334. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CYP17A1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
10:104592334
Cytoband
10q24.32
HGVS
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln)
Allele change
Missense_R358Q

Associated conditions / phenotypes

Isolated 17,20-lyase deficiency|Congenital adrenal hyperplasia

Public references

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