Variant (rsID / SNP)

rs121913388

rs121913388 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN2A. Location: chromosome 9, position 21,971,120. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CDKN2APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:21971120
Cytoband: 9p21.3
HGVS: NM_000077.5(CDKN2A):c.238C>T (p.Arg80Ter)
Allele change: Nonsense_R80X

Associated conditions / phenotypes

Melanoma, cutaneous malignant, susceptibility to, 2|Melanoma|Hereditary cancer-predisposing syndrome|Lip and oral cavity carcinoma

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.