Variant (rsID / SNP)
rs199907548
rs199907548 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN2A. Location: chromosome 9, position 21,974,681. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CDKN2AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:21974681
- Cytoband
- 9p21.3
- HGVS
- NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)
- Allele change
- Missense_I49T
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma-pancreatic cancer syndrome|Osteoblastic osteosarcoma|Melanoma and neural system tumor syndrome|Melanoma and neural system tumor syndrome|Melanoma-pancreatic cancer syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.