Variant (rsID / SNP)

rs864622263

rs864622263 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN2A. Location: chromosome 9, position 21,974,780. 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: 9:21974780
Cytoband: 9p21.3
HGVS: NM_000077.5(CDKN2A):c.47T>G (p.Leu16Arg)
Allele change: Missense_L16R

Associated conditions / phenotypes

Familial melanoma|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.