Variant (rsID / SNP)

rs121918425

rs121918425 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GYS2. Location: chromosome 12, position 21,711,220. Clinical significance in the table: Pathogenic.

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Reference-table entries

GYS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:21711220
Cytoband: 12p12.1
HGVS: NM_021957.4(GYS2):c.1336C>G (p.His446Asp)
Allele change: Missense_H446D

Associated conditions / phenotypes

Glycogen storage disorder due to hepatic glycogen synthase deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.