Gene entry
PROP1
PROP paired-like homeobox 1
- Chromosome
- 5
- Cytoband
- 5q35.3
- Variants (rsID)
- 12
PROP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q35.3). Its official name is “PROP paired-like homeobox 1”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs1135320Benignsingle nucleotide variantPituitary hormone deficiency, combined, 2
- rs116225539Benignsingle nucleotide variantPituitary hormone deficiency, combined, 2
- rs1800197Benignsingle nucleotide variantPituitary hormone deficiency, combined, 2
- rs137853100Conflicting interpretationssingle nucleotide variantPituitary hormone deficiency, combined, 2|Inborn genetic diseases
- rs121917845Likely pathogenicsingle nucleotide variantPituitary hormone deficiency, combined, 2
- rs121917839Pathogenicsingle nucleotide variantPituitary hormone deficiency, combined, 2
- rs121917840Pathogenicsingle nucleotide variantPituitary hormone deficiency, combined, 2
- rs121917842Pathogenicsingle nucleotide variantPituitary hormone deficiency, combined, 2
- rs121917843Pathogenicsingle nucleotide variantPituitary hormone deficiency, combined, 2
- rs193922688PathogenicMicrosatellitePituitary hormone deficiency, combined, 2|Combined pituitary hormone deficiencies, genetic form|46,XY partial gonadal dysgenesis
- rs587776682PathogenicDeletionPituitary hormone deficiency, combined, 2
- rs201266211Uncertain significancesingle nucleotide variantPituitary hormone deficiency, combined, 2
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.