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Variant (rsID / SNP)

rs6445

CYP21A2

rs6445 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP21A2. Location: chromosome 6, position 32,008,783. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CYP21A2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
6:32008783
Cytoband
6p21.33
HGVS
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
Allele change
Missense_P424S

Associated conditions / phenotypes

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency|Congenital lipoid adrenal hyperplasia due to STAR deficency

Public references

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