Variant (rsID / SNP)
rs104894135
rs104894135 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP17A1. Location: chromosome 10, position 104,595,131. Clinical significance in the table: Pathogenic.
Reference-table entries
CYP17A1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:104595131
- Cytoband
- 10q24.32
- HGVS
- NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro)
- Allele change
- Missense_S106P
Associated conditions / phenotypes
Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency|Deficiency of steroid 17-alpha-monooxygenase
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.