Variant (rsID / SNP)
rs142883971
rs142883971 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GYS2. Location: chromosome 12, position 21,692,210. Clinical significance in the table: Benign.
Reference-table entries
GYS2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:21692210
- Cytoband
- 12p12.1
- HGVS
- NM_021957.4(GYS2):c.1872A>G (p.Glu624=)
- Allele change
- Synonymous_E624E
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.