Variant (rsID / SNP)

rs121908309

rs121908309 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBA1, GBA. Location: chromosome 1, position 155,206,068. Clinical significance in the table: Pathogenic.

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Reference-table entries

GBA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:155206068
Cytoband: 1q22
HGVS: NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)
Allele change: Nonsense_R398X

Associated conditions / phenotypes

Gaucher disease perinatal lethal|Gaucher disease|Gaucher disease type I

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.