Individual #00006415

Reference Makito Hirano, Yusaku Nakamura, Kazumasa Saigoh, et al. (2013)
Ethnic origin Japanese
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     
0000000379 - Isolated (sporadic) XY Liu



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006439 ? ? SQSTM1 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.179263586C>T Makito Hirano, Yusaku Nakamura, Kazumasa Saigoh, et al. (2013) SQSTM1_000029 - XY Liu SQSTM1 8 NM_003900.4:c.1316C>T r.(?) p.(Pro439Leu) - -
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