Variant (rsID / SNP)
rs794726872
rs794726872 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKN1C. Location: chromosome 11, position 2,906,108. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CDKN1CConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:2906108
- Cytoband
- 11p15.4
- HGVS
- NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=)
- Allele change
- Synonymous_P193P
Associated conditions / phenotypes
Beckwith-Wiedemann syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.