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Variant (rsID / SNP)

rs374984975

CDKN2A

rs374984975 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN2A. Location: chromosome 9, position 21,971,160. 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
9:21971160
Cytoband
9p21.3
HGVS
NM_000077.5(CDKN2A):c.198C>T (p.His66=)
Allele change
Synonymous_H66H

Associated conditions / phenotypes

Familial melanoma|Hereditary cancer-predisposing syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.