Variant (rsID / SNP)

rs777676129

rs777676129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP24A1. Location: chromosome 20, position 52,789,467. 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: Microsatellite
Chromosome / position: 20:52789467
Cytoband: 20q13.2
HGVS: NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del)

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.