Variant (rsID / SNP)

rs587778189

rs587778189 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN2A. Location: chromosome 9, position 21,974,678. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CDKN2AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:21974678
Cytoband: 9p21.3
HGVS: NM_000077.5(CDKN2A):c.149A>T (p.Gln50Leu)
Allele change: Missense_Q50R

Associated conditions / phenotypes

Familial melanoma

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.