Variant (rsID / SNP)

rs147099791

rs147099791 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13B. Location: chromosome 8, position 100,729,474. Clinical significance in the table: Uncertain significance.

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Reference-table entries

VPS13BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:100729474
Cytoband: 8q22.2
HGVS: NM_152564.5(VPS13B):c.6530G>A (p.Arg2177His)
Allele change: Missense_R2202H

Associated conditions / phenotypes

History of neurodevelopmental disorder|Cohen syndrome

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.