Variant (rsID / SNP)

rs72551314

rs72551314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP27A1. Location: chromosome 2, position 219,676,973. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CYP27A1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:219676973
Cytoband: 2q35
HGVS: NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)
Allele change: Nonsense_Q159X

Associated conditions / phenotypes

Cholestanol storage disease

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.