Variant (rsID / SNP)
rs6022990
rs6022990 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP24A1. Location: chromosome 20, position 52,775,532. Clinical significance in the table: Benign.
Reference-table entries
CYP24A1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:52775532
- Cytoband
- 20q13.2
- HGVS
- NM_000782.5(CYP24A1):c.1121T>C (p.Met374Thr)
- Allele change
- Missense_M374T
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.