Variant (rsID / SNP)

rs748404277

rs748404277 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13B. Location: chromosome 8, position 100,712,001. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

VPS13BPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 8:100712001
Cytoband: 8q22.2
HGVS: NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs)

Associated conditions / phenotypes

Cohen syndrome|Abnormality of the eye

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.