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Variant (rsID / SNP)

rs45476696

CDKN2A

rs45476696 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN2A. Location: chromosome 9, position 21,970,901. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CDKN2APathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
9:21970901
Cytoband
9p21.3
HGVS
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr)
Allele change
Missense_E153K

Associated conditions / phenotypes

Familial melanoma|Hereditary cancer-predisposing syndrome|Melanoma-pancreatic cancer syndrome

Public references

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