Individual #00000689

Reference Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Yuan L, Pan L, Hadano S, Shang HF.(2014)
Ethnic origin Han Chinese
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


Phenotypes

Amyotrophic Lateral Sclerosis (ALS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000395 - Isolated (sporadic) XY Liu



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000689 ? ? SQSTM1 1 Y Yang



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.179250047A>C Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Yuan L, Pan L, Hadano S, Shang HF.(2014) SQSTM1_000001 - Y Yang SQSTM1 5 NM_003900.4:c.295A>C r.(?) p.(Ile99Leu) - -
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