Glycogen storage disease, type V
An Autosomal recessive mode(s) within the Metabolic disorders category
Pathogenic
2
Pathogenic/Likely pathogenic
1
Uncertain significance
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_002863.5(PYGL):c.2056G>C (p.Gly686Arg) | Single nucleotide variant | Chr14:50910016 | Uncertain significance | Missense variant | rs2050377435 |
.Centre for Human Genetics |
| NM_002863.5(PYGL):c.72C>A (p.Asn24Lys) | Single nucleotide variant | Chr14:50944332 | Pathogenic | Missense variant | rs1375868904 |
.Centre for Human Genetics |
| NM_002863.5(PYGL):c.1620+1G>C | Single nucleotide variant | Chr14:50913028 | Pathogenic | Splice donor variant | rs113993981 |
.Centre for Human Genetics .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM .Suma Genomics |
| NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys) | Single nucleotide variant | Chr14:50910055 | Uncertain significance | Missense variant | rs113993984 |
.Centre for Human Genetics |
| NM_005609.4(PYGM):c.1768+1G>A | Single nucleotide variant | Chr11:64751923 | Pathogenic/Likely pathogenic | Splice donor variant | rs771427957 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Lifecell International Pvt. Ltd |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution