Variant (rsID / SNP)

rs104894143

rs104894143 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP17A1. Location: chromosome 10, position 104,591,292. 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: 10:104591292
Cytoband: 10q24.32
HGVS: NM_000102.4(CYP17A1):c.1216T>C (p.Trp406Arg)
Allele change: Missense_W406R

Associated conditions / phenotypes

Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency

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.