Variant (rsID / SNP)

rs2066827

rs2066827 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN1B. Location: chromosome 12, position 12,871,099. Clinical significance in the table: Benign.

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Reference-table entries

CDKN1BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:12871099
Cytoband: 12p13.1
HGVS: NM_004064.5(CDKN1B):c.326T>G (p.Val109Gly)
Allele change: Missense_V109G

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia type 4

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.