Variant (rsID / SNP)
rs556794126
rs556794126 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP17A1. Location: chromosome 10, position 104,590,547. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CYP17A1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Duplication
- Chromosome / position
- 10:104590547
- Cytoband
- 10q24.32
- HGVS
- NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)
Associated conditions / phenotypes
Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency|Deficiency of steroid 17-alpha-monooxygenase|Congenital adrenal hyperplasia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.