Individual #00000469

Reference Orrell RW1, Habgood J, Rudge P, Lane RJ, de Belleroche JS.(1996)
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


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000469 ? ? SOD1 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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DB-ID     

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Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
21 Unknown ./. g.33039635G>A Orrell RW1, Habgood J, Rudge P, Lane RJ, de Belleroche JS.(1996) SOD1_000033 - Y Yang SOD1 4 NM_000454.4:c.304G>A r.(?) p.(Asp102Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
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