Variant (rsID / SNP)

rs121908312

rs121908312 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBA1, GBA. Location: chromosome 1, position 155,209,507. 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: 1:155209507
Cytoband: 1q22
HGVS: NM_000157.4(GBA1):c.354G>C (p.Lys118Asn)
Allele change: Missense_K118N

Associated conditions / phenotypes

Gaucher disease type I|Gaucher disease type III|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.