Variant (rsID / SNP)

rs200422211

rs200422211 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN1B. Location: chromosome 12, position 12,870,898. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CDKN1BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:12870898
Cytoband: 12p13.1
HGVS: NM_004064.5(CDKN1B):c.125C>T (p.Thr42Ile)
Allele change: Missense_T42I

Associated conditions / phenotypes

Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome

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.