Individual #00000732

Reference Kim YE1, Oh KW2, Kwon MJ3, Choi WJ2, Oh SI4, Ki CS5, Kim SH6.(2015
Ethnic origin Korean
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     
0000000406 - Isolated (sporadic) XY Liu



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000732 ? ? FUS 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     
16 Unknown ./. g.31202373C>T Kim YE1, Oh KW2, Kwon MJ3, Choi WJ2, Oh SI4, Ki CS5, Kim SH6.(2015 FUS_000021 - Y Yang FUS 14 NM_004960.3:c.1483C>T r.(?) p.(Arg495*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation
Legend   How to query