Variant (rsID / SNP)
rs104894094
rs104894094 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN2A. Location: chromosome 9, position 21,971,057. Clinical significance in the table: Pathogenic.
Reference-table entries
CDKN2APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:21971057
- Cytoband
- 9p21.3
- HGVS
- NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)
- Allele change
- Missense_G101W
Associated conditions / phenotypes
Melanoma-pancreatic cancer syndrome|Melanoma, cutaneous malignant, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.