Variant (rsID / SNP)
rs191213443
rs191213443 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GYS1. Location: chromosome 19, position 49,490,442. Clinical significance in the table: Benign.
Reference-table entries
GYS1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:49490442
- Cytoband
- 19q13.33
- HGVS
- NM_002103.5(GYS1):c.492+9C>T
- Allele change
- Silent
Associated conditions / phenotypes
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.