Variant (rsID / SNP)

rs28940272

rs28940272 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13B. Location: chromosome 8, position 100,832,259. 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: 8:100832259
Cytoband: 8q22.2
HGVS: NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
Allele change: Missense_N2993S

Associated conditions / phenotypes

Cohen syndrome|History of neurodevelopmental disorder

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.