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Variant (rsID / SNP)

rs200883871

CYP27A1

rs200883871 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP27A1. Location: chromosome 2, position 219,679,419. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CYP27A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:219679419
Cytoband
2q35
HGVS
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)
Allele change
Missense_G472A

Associated conditions / phenotypes

Cholestanol storage disease

Public references

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