Variant (rsID / SNP)

rs79314063

rs79314063 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POT1. Location: chromosome 7, position 124,481,168. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

POT1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:124481168
Cytoband: 7q31.33
HGVS: NM_015450.3(POT1):c.1228G>C (p.Asp410His)
Allele change: Silent

Associated conditions / phenotypes

Melanoma, cutaneous malignant, susceptibility to, 10|Hereditary cancer-predisposing syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.