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Variant (rsID / SNP)

rs61495246

CYP2R1

rs61495246 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP2R1. Location: chromosome 11, position 14,907,393. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CYP2R1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:14907393
Cytoband
11p15.2
HGVS
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)
Allele change
Missense_L99P

Associated conditions / phenotypes

Vitamin D hydroxylation-deficient rickets, type 1B|Vitamin D-dependent rickets, type 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.