Variant (rsID / SNP)
rs142752477
rs142752477 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAA. Location: chromosome 17, position 78,082,336. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
GAAPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:78082336
- Cytoband
- 17q25.3
- HGVS
- NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
- Allele change
- Missense_R375H
Associated conditions / phenotypes
Glycogen storage disease, type II
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.