Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs140167393

CDKN1B

rs140167393 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN1B. Location: chromosome 12, position 12,871,050. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CDKN1BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:12871050
Cytoband
12p13.1
HGVS
NM_004064.5(CDKN1B):c.277C>T (p.Arg93Trp)
Allele change
Missense_R93W

Associated conditions / phenotypes

Multiple endocrine neoplasia type 4|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.