Variant (rsID / SNP)
rs180177329
rs180177329 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13B. Location: chromosome 8, position 100,836,059. Clinical significance in the table: Pathogenic.
Reference-table entries
VPS13BPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 8:100836059
- Cytoband
- 8q22.2
- HGVS
- NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)
Associated conditions / phenotypes
Cohen syndrome|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.