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Variant (rsID / SNP)

rs142476821

VPS13B

rs142476821 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13B. Location: chromosome 8, position 100,874,030. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

VPS13BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:100874030
Cytoband
8q22.2
HGVS
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)
Allele change
Missense_A3716T

Associated conditions / phenotypes

Cohen syndrome|History of neurodevelopmental disorder

Public references

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