Gene entry
P3H1
prolyl 3-hydroxylase 1
- Chromosome
- 1
- Cytoband
- 1p34.2
- Variants (rsID)
- 20
P3H1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p34.2). Its official name is “prolyl 3-hydroxylase 1”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs7552138Benignsingle nucleotide variant
- rs113593896Conflicting interpretationssingle nucleotide variantOsteogenesis imperfecta type 8|Osteogenesis imperfecta
- rs11581921Conflicting interpretationssingle nucleotide variantOsteogenesis imperfecta type 8|Osteogenesis Imperfecta, Recessive
- rs139259804Conflicting interpretationssingle nucleotide variantOsteogenesis imperfecta type 8|Osteogenesis Imperfecta, Recessive
- rs533729683Conflicting interpretationssingle nucleotide variantOsteogenesis imperfecta type 8|Osteogenesis Imperfecta, Recessive
- rs55716016Conflicting interpretationssingle nucleotide variantOsteogenesis imperfecta type 8|Osteogenesis Imperfecta, Recessive|Osteogenesis imperfecta
- rs6700677Conflicting interpretationssingle nucleotide variantOsteogenesis imperfecta type 8|Osteogenesis Imperfecta, Recessive
- rs77208721Conflicting interpretationssingle nucleotide variantOsteogenesis imperfecta type 8|Osteogenesis Imperfecta, Recessive|Osteogenesis imperfecta
- rs118203996Pathogenicsingle nucleotide variantOsteogenesis imperfecta type 8
- rs72659351Pathogenicsingle nucleotide variantOsteogenesis imperfecta type 8|Osteogenesis imperfecta
- rs144336336Uncertain significancesingle nucleotide variantOsteogenesis imperfecta type 8|Osteogenesis Imperfecta, Recessive
- rs202209556Uncertain significancesingle nucleotide variantOsteogenesis imperfecta type 8
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.