Variant (rsID / SNP)

rs34353044

rs34353044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBA2. Location: chromosome 9, position 35,740,615. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GBA2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:35740615
Cytoband: 9p13.3
HGVS: NM_020944.3(GBA2):c.1037C>T (p.Thr346Met)
Allele change: Missense_T346M

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.