Variant (rsID / SNP)

rs61754278

rs61754278 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP17A1. Location: chromosome 10, position 104,592,367. Clinical significance in the table: Pathogenic.

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Reference-table entries

CYP17A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:104592367
Cytoband: 10q24.32
HGVS: NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His)
Allele change: Missense_R347H

Associated conditions / phenotypes

Isolated 17,20-lyase deficiency|Deficiency of steroid 17-alpha-monooxygenase

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.