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Variant (rsID / SNP)

rs118204009

CYP27B1

rs118204009 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP27B1. Location: chromosome 12, position 58,157,930. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CYP27B1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
12:58157930
Cytoband
12q14.1
HGVS
NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His)
Allele change
Missense_R389H

Associated conditions / phenotypes

Vitamin D-dependent rickets, type 1|Vitamin D-dependent rickets, type 1A

Public references

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