Variant (rsID / SNP)

rs386834070

rs386834070 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13B. Location: chromosome 8, position 100,146,872. Clinical significance in the table: Pathogenic.

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Reference-table entries

VPS13BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:100146872
Cytoband: 8q22.2
HGVS: NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter)
Allele change: Nonsense_Q407X

Associated conditions / phenotypes

Cohen syndrome|8 conditions

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.