Variant (rsID / SNP)

rs121908300

rs121908300 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBA. Location: chromosome 1, position 155,207,935. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GBAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:155207935
Cytoband: 1q22
HGVS: NM_000157.4(GBA):c.751T>C (p.Tyr251His)
Allele change: Missense_Y251H

Associated conditions / phenotypes

Gaucher disease type I|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.