NM_005609.4(PYGM):c.1827G>A (p.Lys609=) AND Glycogen storage disease, type V
| Significance: | Likely pathogenic |
|---|---|
| ClinVar: | RCV000002403 |
Variant: NM_005609.4(PYGM):c.1827G>A (p.Lys609=) |
|
| Type: | Variant |
Allele: NM_005609.4(PYGM):c.1827G>A (p.Lys609=) 17352 |
|
| Gene: | PYGM |
| Type: | single nucleotide variant |
| Location: |
Chr11: 64519069
- assembly
GRCh37 Chr11: 64751597 - assembly GRCh38 |
| References: | dbSNP:
119103259 OMIM: 608455.0016 |
Condition |
|
| Disease: | Glycogen storage disease, type V |