Gene entry
POT1
protection of telomeres 1
- Chromosome
- 7
- Cytoband
- 7q31.33
- Variants (rsID)
- 18
POT1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q31.33). Its official name is “protection of telomeres 1”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs35536751Benignsingle nucleotide variantMelanoma, cutaneous malignant, susceptibility to, 10|Hereditary cancer-predisposing syndrome
- rs79314063Benignsingle nucleotide variantMelanoma, cutaneous malignant, susceptibility to, 10|Hereditary cancer-predisposing syndrome
- rs143635917Conflicting interpretationssingle nucleotide variantMelanoma, cutaneous malignant, susceptibility to, 10|Hereditary cancer-predisposing 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.