RS114368325 CYP24A1

Health Risk Chr 20:54158135 snv missense variant
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What This Variant Does
"CLNSIG=5
Associated Conditions
Hypercalcemia
infantile
1
Muscle spasm
Inborn genetic diseases
Hypercalcemia
infantile
1
Muscle spasm
Inborn genetic diseases
ClinVar Assertions (1)
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)
· 21 submitters
Population Frequencies
gnomAD ALL
99.9%
1kG AFR
100%
1kG ALL
100%
1kG AMR
99.9%
1kG EAS
100%
1kG EUR
0.1%
1kG SAS
100%
Other Variants in CYP24A1
rs876657376 rs387907322 rs777676129 rs387907323 rs6068812 rs387907324 rs777947329 rs35873579 rs552660376 rs372360343
Ask Dr. Hemsworth about this variant