Variant (rsID / SNP)

rs76539814

rs76539814 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBA. Location: chromosome 1, position 155,206,175. Clinical significance in the table: Pathogenic.

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Reference-table entries

GBAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:155206175
Cytoband: 1q22
HGVS: NM_000157.4(GBA):c.1085C>T (p.Thr362Ile)
Allele change: Missense_T362I

Associated conditions / phenotypes

Gaucher disease type I|Gaucher disease type II|Gaucher disease

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.