Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs6413463

CDKN2A

rs6413463 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN2A. Location: chromosome 9, position 21,970,989. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CDKN2AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:21970989
Cytoband
9p21.3
HGVS
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)
Allele change
Missense_H123Q

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Melanoma-pancreatic cancer syndrome|Melanoma, cutaneous malignant, susceptibility to, 2|Familial melanoma

Public references

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