Individual #00006217

Reference W Robberecht, P Sapp, M K Viaene, D Rosen, D McKenna-Yasek, J Haines, R Horvitz, P Theys, R Brown Jr
Ethnic origin -
Remarks -
Panel size 1
Diseases ALS
Owner name XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu


Phenotypes

Amyotrophic Lateral Sclerosis (ALS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000066 red blood cell SOD1 activity was normal Isolated (sporadic) XY Liu



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006239 ? ? SOD1 1 XY Liu



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
21 Unknown -/. g.33036145C>G W Robberecht, P Sapp, M K Viaene, D Rosen, D McKenna-Yasek, J Haines, R Horvitz, P Theys, R Brown Jr SOD1_000015 - XY Liu SOD1 2 NM_000454.4:c.115C>G r.(115c>g) p.(Leu39Val) - -
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