Variant (rsID / SNP)

rs142602400

rs142602400 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBA2. Location: chromosome 9, position 35,741,033. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GBA2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:35741033
Cytoband: 9p13.3
HGVS: NM_020944.3(GBA2):c.815T>C (p.Val272Ala)
Allele change: Missense_V272A

Associated conditions / phenotypes

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.