Variant (rsID / SNP)

rs121918421

rs121918421 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GYS2. Location: chromosome 12, position 21,715,899. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GYS2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:21715899
Cytoband: 12p12.1
HGVS: NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro)
Allele change: Missense_A339P

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.