NM_005609.3(PYGM):c.1628A>C (p.Lys543Thr) AND Glycogen storage disease, type V
| Significance: | Pathogenic |
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| ClinVar: | RCV000002390 |
Variant: NM_005609.3(PYGM):c.1628A>C (p.Lys543Thr) |
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| Type: | Variant |
Allele: NM_005609.3(PYGM):c.1628A>C (p.Lys543Thr) 17339 |
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| 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 |
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| Disease: | Glycogen storage disease, type V |
Citation |
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For discussion of the lys543-to-thr (K543T) mutation in the PYGM gene that was found in compound heterozygous state in patients with McArdle disease (GSD5; 232600) by Tsujino et al. (1993), see 608455.0001. PMID:8316268 |
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