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Variant (rsID / SNP)

rs137985549

CDKN1B

rs137985549 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN1B. Location: chromosome 12, position 12,871,170. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CDKN1BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:12871170
Cytoband
12p13.1
HGVS
NM_004064.5(CDKN1B):c.397C>A (p.Pro133Thr)
Allele change
Missense_P133T

Associated conditions / phenotypes

Multiple endocrine neoplasia type 4|Primary hyperparathyroidism|Hereditary cancer-predisposing syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.