Gene entry
PYGL
glycogen phosphorylase L
- Chromosome
- 14
- Cytoband
- 14q22.1
- Variants (rsID)
- 34
PYGL is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q22.1). Its official name is “glycogen phosphorylase L”. The reference table lists 34 variants (rsID) for this gene.
Clinically classified variants
19 reference-table entries with clinical significance.
- rs116465563Benignsingle nucleotide variantGlycogen storage disease, type VI
- rs146741789Benignsingle nucleotide variantGlycogen storage disease, type VI
- rs147211684Benignsingle nucleotide variantGlycogen storage disease, type VI
- rs150483902Benignsingle nucleotide variantGlycogen storage disease, type VI
- rs15669Benignsingle nucleotide variantGlycogen storage disease, type VI
- rs17123214Benignsingle nucleotide variant
- rs35501326Benignsingle nucleotide variantGlycogen storage disease, type VI
- rs77316189Benignsingle nucleotide variantGlycogen storage disease, type VI
- rs946616Benignsingle nucleotide variantGlycogen storage disease, type VI
- rs143759519Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type VI
- rs35026927Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type VI
- rs144099482Likely benignsingle nucleotide variantGlycogen storage disease, type VI
- rs34096980Likely benignsingle nucleotide variantGlycogen storage disease, type VI
- rs150547274Pathogenicsingle nucleotide variant
- rs113993987Uncertain significancesingle nucleotide variantGlycogen storage disease, type VI
- rs113993979Not classifiedsingle nucleotide variantGlycogen storage disease, type VI
- rs113993980Not classifiedsingle nucleotide variantGlycogen storage disease, type VI
- rs113993986Not classifiedsingle nucleotide variantGlycogen storage disease, type VI
- rs113993988Not classifiedsingle nucleotide variantGlycogen storage disease, type VI
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
