Variant (rsID / SNP)
rs372670098
rs372670098 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN2A. Location: chromosome 9, position 21,971,152. 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
- 9:21971152
- Cytoband
- 9p21.3
- HGVS
- NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly)
- Allele change
- Missense_E69G
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Familial melanoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
