Gene entry
PCYT1A
phosphate cytidylyltransferase 1A, choline
- Chromosome
- 3
- Cytoband
- 3q29
- Variants (rsID)
- 14
PCYT1A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q29). Its official name is “phosphate cytidylyltransferase 1A, choline”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs587777193Conflicting interpretationsDeletionSpondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- rs540053239Pathogenicsingle nucleotide variantSpondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- rs587777189Pathogenicsingle nucleotide variantSpondylometaphyseal dysplasia-cone-rod dystrophy syndrome|Inborn genetic diseases
- rs587777190Pathogenicsingle nucleotide variantSpondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- rs587777191Pathogenicsingle nucleotide variantSpondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- rs587777192Pathogenicsingle nucleotide variantSpondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- rs587777194Pathogenicsingle nucleotide variantSpondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- rs587777195Pathogenicsingle nucleotide variantSpondylometaphyseal dysplasia-cone-rod dystrophy syndrome
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.