Variant (rsID / SNP)

rs2296241

rs2296241 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP24A1. Location: chromosome 20, position 52,786,219. Clinical significance in the table: Benign.

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Reference-table entries

CYP24A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:52786219
Cytoband: 20q13.2
HGVS: NM_000782.5(CYP24A1):c.552C>T (p.Ala184=)
Allele change: Synonymous_A184A

Associated conditions / phenotypes

Hypercalcemia, infantile, 1

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.