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Variant (rsID / SNP)

rs6068812

CYP24A1

rs6068812 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP24A1. Location: chromosome 20, position 52,774,635. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CYP24A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:52774635
Cytoband
20q13.2
HGVS
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)
Allele change
Missense_L409S

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.