Variant (rsID / SNP)

rs72547508

rs72547508 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP11A1. Location: chromosome 15, position 74,632,028. 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: 15:74632028
Cytoband: 15q24.1
HGVS: NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp)
Allele change: Missense_R353W

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

dbSNP
ClinVar
Ensembl
gnomAD

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