Variant (rsID / SNP)

rs2034088

rs2034088 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS53. Location: chromosome 17, position 423,051. Clinical significance in the table: Benign.

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Reference-table entries

VPS53Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:423051
Cytoband: 17p13.3
HGVS: NM_001128159.3(VPS53):c.2328+15A>G
Allele change: Silent

Associated conditions / phenotypes

Pontocerebellar hypoplasia type 2E

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.