Variant (rsID / SNP)

rs386834104

rs386834104 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13B. Location: chromosome 8, position 100,733,172. 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: 8:100733172
Cytoband: 8q22.2
HGVS: NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys)
Allele change: Missense_Y2341C

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.