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Variant (rsID / SNP)

rs75548401

GBA1GBA

rs75548401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBA1, GBA. Location: chromosome 1, position 155,206,037. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GBA1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:155206037
Cytoband
1q22
HGVS
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
Allele change
Missense_T408M

Associated conditions / phenotypes

Parkinson disease, late-onset|Gaucher disease perinatal lethal|Gaucher disease

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.