Variant (rsID / SNP)

rs200476090

rs200476090 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN1B. Location: chromosome 12, position 12,871,216. 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: 12:12871216
Cytoband: 12p13.1
HGVS: NM_004064.5(CDKN1B):c.443G>T (p.Cys148Phe)
Allele change: Missense_C148F

Associated conditions / phenotypes

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.