Variant (rsID / SNP)
rs143137713
rs143137713 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GYG1. Location: chromosome 3, position 148,714,249. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GYG1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:148714249
- Cytoband
- 3q24
- HGVS
- NM_004130.4(GYG1):c.304G>C (p.Asp102His)
- Allele change
- Missense_D102H
Associated conditions / phenotypes
Polyglucosan body myopathy type 2|Glycogen storage disease XV|Polyglucosan body myopathy type 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.