Variant (rsID / SNP)
rs367968666
rs367968666 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBA1, GBA. Location: chromosome 1, position 155,207,249. Clinical significance in the table: Conflicting interpretations of pathogenicity; other.
Reference-table entries
GBA1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity; other
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:155207249
- Cytoband
- 1q22
- HGVS
- NM_000157.4(GBA1):c.882T>G (p.His294Gln)
- Allele change
- Missense_H294Q
Associated conditions / phenotypes
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome|Gaucher disease type I|Gaucher disease type II|Gaucher disease type III|Gaucher disease perinatal lethal|Gaucher disease|Gaucher disease type I
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.