Variant (rsID / SNP)

rs370652040

rs370652040 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GYG1. Location: chromosome 3, position 148,712,067. 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: 3:148712067
Cytoband: 3q24
HGVS: NM_004130.4(GYG1):c.143+3G>C
Allele change: Silent

Associated conditions / phenotypes

Polyglucosan body myopathy type 2|Glycogen storage disease XV|Polyglucosan body myopathy type 2|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.