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Variant (rsID / SNP)

rs139640224

VPS13B

rs139640224 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13B. Location: chromosome 8, position 100,654,723. 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
8:100654723
Cytoband
8q22.2
HGVS
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val)
Allele change
Missense_I1994V

Associated conditions / phenotypes

Cohen syndrome|History of neurodevelopmental disorder|Neutropenia, severe congenital, 1, autosomal dominant

Public references

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