Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs73281150

CDKN1B

rs73281150 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN1B. Location: chromosome 12, position 12,871,860. Clinical significance in the table: Benign/Likely benign.

Reference-table entries

CDKN1BBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
12:12871860
Cytoband
12p13.1
HGVS
NM_004064.5(CDKN1B):c.577C>T (p.Leu193Phe)
Allele change
Missense_L193F

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia type 4

Public references

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