Variant (rsID / SNP)

rs267606858

rs267606858 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GYG1. Location: chromosome 3, position 148,714,193. Clinical significance in the table: Pathogenic.

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Reference-table entries

GYG1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:148714193
Cytoband: 3q24
HGVS: NM_004130.4(GYG1):c.248C>T (p.Thr83Met)
Allele change: Missense_T83M

Associated conditions / phenotypes

Glycogen storage disease XV

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.