NM_005609.4(PYGM):c.1725del (p.Lys575fs) AND Glycogen storage disease, type V
| Significance: | Pathogenic |
|---|---|
| ClinVar: | RCV000002398 |
Variant: NM_005609.4(PYGM):c.1725del (p.Lys575fs) |
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| Type: | Variant |
Allele: NM_005609.4(PYGM):c.1725del (p.Lys575fs) 17347 |
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| Gene: | PYGM |
| Type: | Deletion |
| Location: |
Chr11: 64519439
- assembly
GRCh37 Chr11: 64751967 - assembly GRCh38 |
| References: | dbSNP:
786200874 OMIM: 608455.0011 |
Condition |
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| Disease: | Glycogen storage disease, type V |
Citation |
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For discussion of the 1-bp deletion (A) n lys753 of the PYGM gene that was found in compound heterozygous state in a patient with myophosphorylase deficiency (GSD5; 232600) by Vorgerd et al. (1998), see 608455.0010. PMID:9506549 |
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