Individual #00006517

Reference Lu Tang, et al. (2018)
Ethnic origin Chinese
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     
0000000491 - Familial XY Liu



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006541 ? ? 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.33032096C>T Lu Tang, et al. (2018) SOD1_000079 - XY Liu SOD1 1 NM_000454.4:c.14C>T r.(14c>u) p.(Ala5Val) - -
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