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NM_005609.3(PYGM):c.1725del (p.Lys575Asnfs) AND Glycogen storage disease, type V

Significance: Pathogenic
ClinVar: RCV000002398

Variant: NM_005609.3(PYGM):c.1725del (p.Lys575Asnfs)

Type: Variant
Allele: NM_005609.3(PYGM):c.1725del (p.Lys575Asnfs) 17347
Gene:
Type: Deletion
Location: Chr11: 64519439 - assembly GRCh37
Chr11: 64751967 - assembly GRCh38
References: dbSNP: 786200874
OMIM: 608455.0011

Condition

Disease: Glycogen storage disease, type V

Citation

    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