Skip to main content


Table 1 Genotypes of LD patients living in Germany

From: Genotypes and phenotypes of patients with Lafora disease living in Germany

P. nr. Variant Alleles Ref.
NC_000006.11: NM_005670.3:    
1a g.146056376 T > C c.259A > G p.(Lys87Glu) Homo.  
2a g.[146056360_146056366del]; [145,948,631 T > A] c.[269_275del];[917A > T] p.[(Lys90Serfs*35);(Asp306Val)] Comp. het. [6]
3a g.146056345A > C c.290 T > G p.(Leu97Arg) Homo.  
4 g.146007412G > A c.322C > T p.(Arg108Cys) Homo. [1]
5a g.145948789delinsTGCATG c.759delinsCATGCA p.(Ala254Metfs*33) Homo.  
6a g.145948712C > A c.836G > T p.(Gly279Val) Homo.  
NC_000006.11: NM_198586.2:    
7a g.18122453G > A c.385C > T p.(Pro129Ser) Homo.  
8, 9 g.18122402C > T c.436G > A p.Asp146Asn Homo. [2, 7]
10a g.[18122402C > T]; [18122108delC] c.[436G > A];[730delG] p.[(Asp146Asn);(Val244Serfs*51)] Comp. het. [2, 7]
11a g.18122255del c.583del p.(Asp195Ilefs*37) Homo.  
  1. Patients with novel variants are indicated by a superscripted letter (a). Annotation based on human reference genome Homo sapiens GRCh37 (hg19)