Variant (rsID / SNP)

rs200894732

rs200894732 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBA2. Location: chromosome 9, position 35,738,127. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GBA2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:35738127
Cytoband: 9p13.3
HGVS: NM_020944.3(GBA2):c.2220C>A (p.Ser740Arg)
Allele change: Missense_S740R

Associated conditions / phenotypes

Spastic paraplegia|Hereditary 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.