Variant (rsID / SNP)

rs6468694

rs6468694 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13B. Location: chromosome 8, position 100,865,836. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

VPS13BBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:100865836
Cytoband: 8q22.2
HGVS: NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg)
Allele change: Missense_G3432R

Associated conditions / phenotypes

Cohen syndrome|History of neurodevelopmental disorder

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.