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Variant (rsID / SNP)

rs150433001

GYS2

rs150433001 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GYS2. Location: chromosome 12, position 21,695,522. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GYS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:21695522
Cytoband
12p12.1
HGVS
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala)
Allele change
Missense_E518A

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.