Gene entry
GNPAT
glyceronephosphate O-acyltransferase
- Chromosome
- 1
- Cytoband
- 1q42.2
- Variants (rsID)
- 11
GNPAT is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q42.2). Its official name is “glyceronephosphate O-acyltransferase”. The reference table lists 11 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs11558492Benignsingle nucleotide variantRhizomelic chondrodysplasia punctata type 2
- rs142283145Conflicting interpretationssingle nucleotide variantRhizomelic chondrodysplasia punctata type 2
- rs143205045Conflicting interpretationssingle nucleotide variantRhizomelic chondrodysplasia punctata|Rhizomelic chondrodysplasia punctata type 2
- rs370837823Conflicting interpretationssingle nucleotide variantRhizomelic chondrodysplasia punctata type 2
- rs121434439Pathogenicsingle nucleotide variantRhizomelic chondrodysplasia punctata type 2
- rs121434440Pathogenicsingle nucleotide variantRhizomelic chondrodysplasia punctata type 2
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.