Variant (rsID / SNP)

rs114768494

rs114768494 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP27A1. Location: chromosome 2, position 219,677,301. Clinical significance in the table: Benign.

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Reference-table entries

CYP27A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:219677301
Cytoband: 2q35
HGVS: NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys)
Allele change: Missense_R225C

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.