Individual #00000358



Phenotypes

Amyotrophic Lateral Sclerosis (ALS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000211 - Familial XY Liu



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000358 ? ? FUS 1 Y Yang



Variants

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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.31202720G>T Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J(2009) FUS_000003 - Y Yang FUS 15 NM_004960.3:c.1542G>T r.(?) p.(Arg514Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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