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NM_005609.4(PYGM):c.1827G>A (p.Lys609=) AND Glycogen storage disease, type V

Significance: Likely pathogenic
ClinVar: RCV000002403

Variant: NM_005609.4(PYGM):c.1827G>A (p.Lys609=)

Type: Variant
Allele: NM_005609.4(PYGM):c.1827G>A (p.Lys609=) 17352
Gene:
Type: single nucleotide variant
Location: Chr11: 64519069 - assembly GRCh37
Chr11: 64751597 - assembly GRCh38
References: dbSNP: 119103259
OMIM: 608455.0016

Condition

Disease: Glycogen storage disease, type V