Variant (rsID / SNP)

rs118204012

rs118204012 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP27B1. Location: chromosome 12, position 58,159,103. Clinical significance in the table: Pathogenic.

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Reference-table entries

CYP27B1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:58159103
Cytoband: 12q14.1
HGVS: NM_000785.4(CYP27B1):c.566A>G (p.Glu189Gly)
Allele change: Missense_E189G

Associated conditions / phenotypes

Vitamin D-dependent rickets, type 1A

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.