Individual #00000679

Reference Praline J1, Vourc'h P, Guennoc AM, Veyrat-Durebex C, Corcia P.(2011)
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     
0000000310 - Familial XY Liu



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000679 ? ? 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 Unknown ?/. g.33032141A>G Praline J1, Vourc'h P, Guennoc AM, Veyrat-Durebex C, Corcia P.(2011) SOD1_000128 - Y Yang SOD1 1 NM_000454.4:c.59A>G r.(59a>g) p.(Asn20Ser) - -
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