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Variant (rsID / SNP)

rs139727620

CDKN1B

rs139727620 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN1B. Location: chromosome 12, position 12,870,998. 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
12:12870998
Cytoband
12p13.1
HGVS
NM_004064.5(CDKN1B):c.225G>C (p.Glu75Asp)
Allele change
Missense_E75D

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.