Variant (rsID / SNP)

rs114120664

rs114120664 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13B. Location: chromosome 8, position 100,205,221. Clinical significance in the table: Benign.

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Reference-table entries

VPS13BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:100205221
Cytoband: 8q22.2
HGVS: NM_152564.5(VPS13B):c.2451T>C (p.His817=)
Allele change: Synonymous_H817H

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.