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Variant (rsID / SNP)

rs121918420

GYS2

rs121918420 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GYS2. Location: chromosome 12, position 21,699,391. 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
12:21699391
Cytoband
12p12.1
HGVS
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)
Allele change
Missense_P479Q

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.