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Variant (rsID / SNP)

rs143635917

POT1

rs143635917 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POT1. Location: chromosome 7, position 124,482,897. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

POT1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:124482897
Cytoband
7q31.33
HGVS
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg)
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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