Individual #00006459

Reference Kon-Ping Lin, Pei-Chien Tsai, Yi-Chu Liao, et al.
Ethnic origin Taiwanese
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     
0000000411 - Isolated (sporadic) XY Liu



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006483 ? ? MATR3 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     
5 Unknown ?/. g.138643318G>A Kon-Ping Lin, Pei-Chien Tsai, Yi-Chu Liao, et al. MATR3_000005 - XY Liu MATR3 5 NM_199189.2:c.214G>A r.(?) p.(Ala72Thr) - -
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