Variant (rsID / SNP)
rs117934093
rs117934093 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13B. Location: chromosome 8, position 100,887,797. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
VPS13BConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:100887797
- Cytoband
- 8q22.2
- HGVS
- NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile)
- Allele change
- Missense_K3991I
Associated conditions / phenotypes
Cohen syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.