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Variant (rsID / SNP)

rs104894099

CDKN2A

rs104894099 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN2A. Location: chromosome 9, position 21,971,182. 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
9:21971182
Cytoband
9p21.3
HGVS
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)
Allele change
Missense_V59G

Associated conditions / phenotypes

Melanoma, cutaneous malignant, susceptibility to, 2|Melanoma-pancreatic cancer syndrome|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.