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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:
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

Citation

    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