Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs41272687

CYP27A1

rs41272687 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP27A1. Location: chromosome 2, position 219,678,877. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CYP27A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:219678877
Cytoband
2q35
HGVS
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
Allele change
Missense_P384L

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.