Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs201820243

CYP24A1

rs201820243 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP24A1. Location: chromosome 20, position 52,789,902. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CYP24A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:52789902
Cytoband
20q13.2
HGVS
NM_000782.5(CYP24A1):c.217A>T (p.Ile73Phe)
Allele change
Missense_I73F

Associated conditions / phenotypes

Hypercalcemia, infantile, 1

Public references

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