Individual #00006237

Reference Josep Gamez, Marc Corbera-Bellalta, Gisela Nogales, et al.
Ethnic origin Catalan
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     
0000000158 - Familial XY Liu



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006260 ? ? 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.33036142G>C Josep Gamez, Marc Corbera-Bellalta, Gisela Nogales, et al. SOD1_000074 - XY Liu SOD1 2 NM_000454.4:c.112G>C r.(112g>c) p.(Gly38Arg) - -
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