Variant (rsID / SNP)

rs114368325

rs114368325 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP24A1. Location: chromosome 20, position 52,774,675. Clinical significance in the table: Pathogenic.

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Reference-table entries

CYP24A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:52774675
Cytoband: 20q13.2
HGVS: NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)
Allele change: Missense_R396W

Associated conditions / phenotypes

Hypercalcemia, infantile, 1|Muscle spasm

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.