Variant (rsID / SNP)
rs777032042
rs777032042 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GYS2. Location: chromosome 12, position 21,712,108. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GYS2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:21712108
- Cytoband
- 12p12.1
- HGVS
- NM_021957.4(GYS2):c.1230-5T>G
- Allele change
- Silent
Associated conditions / phenotypes
Glycogen storage disorder due to hepatic glycogen synthase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.