NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) AND Glycogen storage disease, type V
| Significance: | Pathogenic |
|---|---|
| ClinVar: | RCV000002390 |
Variant: NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) |
|
| Type: | Variant |
Allele: NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) 17339 |
|
| Gene: | PYGM |
| Type: | single nucleotide variant |
| Location: |
Chr11: 64519536
- assembly
GRCh37 Chr11: 64752064 - assembly GRCh38 |
| References: | dbSNP:
119103252 OMIM: 608455.0003 UniProtKB: P11217#VAR_003433 |
Condition |
|
| Disease: | Glycogen storage disease, type V |