Variant (rsID / SNP)
rs529380972
rs529380972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN2A. Location: chromosome 9, position 21,971,211. 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
- 9:21971211
- Cytoband
- 9p21.3
- HGVS
- NM_000077.5(CDKN2A):c.151-4G>C
- Allele change
- Silent
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Melanoma-pancreatic cancer syndrome|Familial melanoma|Hepatocellular carcinoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
