Variant (rsID / SNP)

rs77369218

rs77369218 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBA1, GBA. Location: chromosome 1, position 155,205,517. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

GBA1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:155205517
Cytoband: 1q22
HGVS: NM_000157.4(GBA1):c.1343A>T (p.Asp448Val)
Allele change: Missense_D448V

Associated conditions / phenotypes

Gaucher disease type III|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.