Variant (rsID / SNP)
rs386834236
rs386834236 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAA. Location: chromosome 17, position 78,078,341. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GAAConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:78078341
- Cytoband
- 17q25.3
- HGVS
- NM_000152.5(GAA):c.-32-13T>G
- Allele change
- Silent
Associated conditions / phenotypes
Glycogen storage disease II, adult form|Glycogen storage disease, type II|Inborn genetic diseases|Myopathy|Glycogen storage disease due to acid maltase deficiency, late-onset|Glycogen storage disease, type IV
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.