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Variant (rsID / SNP)

rs121912812

CYP11A1

rs121912812 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP11A1. Location: chromosome 15, position 74,632,009. Clinical significance in the table: Pathogenic.

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Reference-table entries

CYP11A1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:74632009
Cytoband
15q24.1
HGVS
NM_000781.3(CYP11A1):c.1076C>T (p.Ala359Val)
Allele change
Missense_A359V

Associated conditions / phenotypes

Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

Public references

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