Individual #00006581

Reference Xiaolu Liu, et al. (2021)
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     
0000000531 - Isolated (sporadic) XY Liu



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006606 ? ? SQSTM1, TBK1 2 XY Liu



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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.179263445C>T Xiaolu Liu, et al. (2021) SQSTM1_000007 - XY Liu SQSTM1 8 NM_003900.4:c.1175C>T r.(?) p.(Pro392Leu) - -
12 Unknown ?/. g.64860845G>A Xiaolu Liu, et al. (2021) TBK1_000050 - XY Liu TBK1 5 NM_013254.3:c.523G>A r.(523g>a) p.(Gly175Ser) - -
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