Individual #00006318

Reference Ewout J N Groen, Michael A van Es, Paul W J van Vught, et al.
Ethnic origin Dutch
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     
0000000251 - Familial XY Liu



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006341 ? ? FUS 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     
16 Unknown ?/. g.31202739C>T Ewout J N Groen, Michael A van Es, Paul W J van Vught, et al. FUS_000014 - XY Liu FUS 15 NM_004960.3:c.1561C>T r.(?) p.(Arg521Cys) - -
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