Variant (rsID / SNP)

rs878854975

rs878854975 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VAMP1. Location: chromosome 12, position 6,574,054. Clinical significance in the table: Pathogenic.

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Reference-table entries

VAMP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:6574054
Cytoband: 12p13.31
HGVS: NM_014231.5(VAMP1):c.340+2T>G
Allele change: Silent

Associated conditions / phenotypes

Spastic ataxia 1|Spastic paraplegia

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.