Variant (rsID / SNP)
rs2307129
rs2307129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGL. Location: chromosome 1, position 100,327,026. Clinical significance in the table: Benign.
Reference-table entries
AGLBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:100327026
- Cytoband
- 1p21.2
- HGVS
- NM_000642.3(AGL):c.83-33C>T
- Allele change
- Silent
Associated conditions / phenotypes
Glycogen storage disease type III
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.