Variant (rsID / SNP)

rs748174034

rs748174034 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GYS1. Location: chromosome 19, position 49,494,637. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GYS1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 19:49494637
Cytoband: 19q13.33
HGVS: NM_002103.5(GYS1):c.222G>A (p.Arg74=)
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.