Variant (rsID / SNP)
rs139141291
rs139141291 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13B. Location: chromosome 8, position 100,147,926. 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
- 8:100147926
- Cytoband
- 8q22.2
- HGVS
- NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys)
- Allele change
- Missense_R510C
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.