Variant (rsID / SNP)

rs142951866

rs142951866 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GYS1. Location: chromosome 19, position 49,477,975. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GYS1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:49477975
Cytoband: 19q13.33
HGVS: NM_002103.5(GYS1):c.1324C>G (p.Pro442Ala)
Allele change: Silent

Associated conditions / phenotypes

Glycogen storage disease due to muscle and heart 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.