Variant (rsID / SNP)

rs864622636

rs864622636 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN2A. Location: chromosome 9, position 21,974,679. Clinical significance in the table: Pathogenic.

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Reference-table entries

CDKN2APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:21974679
Cytoband: 9p21.3
HGVS: NM_000077.5(CDKN2A):c.148C>T (p.Gln50Ter)
Allele change: Nonsense_Q50X

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.