Individual #00000391

Reference Kato M1, Aoki M, Ohta M, Nagai M, Ishizaki F, Nakamura S, Itoyama Y.(2001)
Ethnic origin -
Remarks -
Panel size 1
Diseases ALS
Owner name Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang


Phenotypes

Amyotrophic Lateral Sclerosis (ALS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000112 - Familial XY Liu



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000391 ? ? SOD1 1 Y Yang



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 Both (homozygous) ?/. g.33040806T>C Kato M1, Aoki M, Ohta M, Nagai M, Ishizaki F, Nakamura S, Itoyama Y.(2001) SOD1_000001 - Y Yang SOD1 5 NM_000454.4:c.380T>C r.(?) p.(Leu127Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
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