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Variant (rsID / SNP)

rs1060504181

CDKN2A

rs1060504181 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN2A. Location: chromosome 9, position 21,971,112. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CDKN2AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:21971112
Cytoband
9p21.3
HGVS
NM_000077.5(CDKN2A):c.246G>C (p.Val82=)
Allele change
Synonymous_V82V

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial melanoma

Public references

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