Variant (rsID / SNP)

rs878853648

rs878853648 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN2A. Location: chromosome 9, position 21,971,016. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CDKN2AConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:21971016
Cytoband: 9p21.3
HGVS: NM_000077.5(CDKN2A):c.342C>G (p.Pro114=)
Allele change: Synonymous_P114P

Associated conditions / phenotypes

Familial melanoma|Hereditary cancer-predisposing 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.