Variant (rsID / SNP)

rs104894098

rs104894098 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN2A. Location: chromosome 9, position 21,970,981. 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: 9:21970981
Cytoband: 9p21.3
HGVS: NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp)
Allele change: Missense_V126D

Associated conditions / phenotypes

Melanoma, cutaneous malignant, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma-pancreatic cancer 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.