Variant (rsID / SNP)

rs1060501262

rs1060501262 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN2A. Location: chromosome 9, position 21,994,137. 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: 9:21994137
Cytoband: 9p21.3
HGVS: NM_058195.4(CDKN2A):c.193+1G>A
Allele change: Silent

Associated conditions / phenotypes

Familial melanoma|Melanoma, cutaneous malignant, susceptibility to, 2

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.