Gene entry
PIGV
phosphatidylinositol glycan anchor biosynthesis class V
- Chromosome
- 1
- Cytoband
- 1p36.11
- Variants (rsID)
- 8
PIGV is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.11). Its official name is “phosphatidylinositol glycan anchor biosynthesis class V”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs118069986Benignsingle nucleotide variantHyperphosphatasia with intellectual disability syndrome 1
- rs139246652Benignsingle nucleotide variantHyperphosphatasia with intellectual disability syndrome 1
- rs139073416Pathogenicsingle nucleotide variantHyperphosphatasia with intellectual disability syndrome 1|Inborn genetic diseases|Hyperphosphatasia-intellectual disability syndrome
- rs267606951Pathogenicsingle nucleotide variantHyperphosphatasia with intellectual disability syndrome 1
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.