Variant (rsID / SNP)

rs386834080

rs386834080 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13B. Location: chromosome 8, position 100,454,845. Clinical significance in the table: Pathogenic.

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Reference-table entries

VPS13BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:100454845
Cytoband: 8q22.2
HGVS: NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)
Allele change: Nonsense_R1143X

Associated conditions / phenotypes

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.