Variant (rsID / SNP)

rs3731249

rs3731249 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN2A. Location: chromosome 9, position 21,970,916. Clinical significance in the table: Benign.

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Reference-table entries

CDKN2ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:21970916
Cytoband: 9p21.3
HGVS: NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr)
Allele change: Missense_A148T

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Melanoma-pancreatic cancer syndrome|Familial melanoma

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.