GLYCOGEN PHOSPHORYLASE, LIVER; PYGL
Allelic Variants (5 Selected Examples) :
Number | Phenotype | Mutation | SNP | gnomAD | ClinVar |
|---|---|---|---|---|---|
| .0001 | GLYCOGEN STORAGE DISEASE VI | PYGL, IVS14DS, G-A, +1 | rs113993982 | rs113993982 | RCV000012772 |
| .0002 | GLYCOGEN STORAGE DISEASE VI | PYGL, IVS4AS, G-C, -1 | rs113993974 | - | RCV000012773 |
| .0003 | GLYCOGEN STORAGE DISEASE VI | PYGL, ASN338SER | rs113993976 | - | RCV000031853 |
| .0004 | GLYCOGEN STORAGE DISEASE VI | PYGL, ASN376LYS | rs113993977 | - | RCV000012775 |
| .0005 | GLYCOGEN STORAGE DISEASE VI | PYGL, IVS13DS, G-A, +1 | rs113993981 | rs113993981 | RCV000012776 |
613741
GLYCOGEN PHOSPHORYLASE, LIVER; PYGL
Allelic Variants (5 Selected Examples :
| Number | Phenotype | Mutation | SNP | gnomAD | ClinVar |
|---|---|---|---|---|---|
| .0001 | GLYCOGEN STORAGE DISEASE VI | PYGL, IVS14DS, G-A, +1 | rs113993982 | rs113993982 | RCV000012772 |
| .0002 | GLYCOGEN STORAGE DISEASE VI | PYGL, IVS4AS, G-C, -1 | rs113993974 | - | RCV000012773 |
| .0003 | GLYCOGEN STORAGE DISEASE VI | PYGL, ASN338SER | rs113993976 | - | RCV000031853 |
| .0004 | GLYCOGEN STORAGE DISEASE VI | PYGL, ASN376LYS | rs113993977 | - | RCV000012775 |
| .0005 | GLYCOGEN STORAGE DISEASE VI | PYGL, IVS13DS, G-A, +1 | rs113993981 | rs113993981 | RCV000012776 |
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: May 1, 2025
OMIM Donation:
Dear OMIM User,
To ensure long-term funding for the OMIM project, we have diversified our revenue stream. We are determined to keep this website freely accessible. Unfortunately, it is not free to produce. Expert curators review the literature and organize it to facilitate your work. Over 90% of the OMIM's operating expenses go to salary support for MD and PhD science writers and biocurators. Please join your colleagues by making a donation now and again in the future. Donations are an important component of our efforts to ensure long-term funding to provide you the information that you need at your fingertips.
Thank you in advance for your generous support,
Ada Hamosh, MD, MPH
Scientific Director, OMIM