Variant (rsID / SNP)

rs5447

rs5447 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GYS1. Location: chromosome 19, position 49,481,243. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GYS1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:49481243
Cytoband: 19q13.33
HGVS: NM_002103.5(GYS1):c.1246A>G (p.Met416Val)
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.