Individual #00006365



Phenotypes

Amyotrophic Lateral Sclerosis (ALS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000301 - Familial XY Liu



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006388 ? ? VAPB 1 XY Liu



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     
20 Unknown ?/. g.56993345C>T Han-Jou Chen, Georgia Anagnostou, Andrea Chai, James Withers, Alex Morris, Jason Adhikaree, Giuseppa Pennetta, Jackie S de Belleroche VAPB_000011 - XY Liu VAPB 2 NM_004738.4:c.137C>T r.(137c>u) p.(Thr46Ile) - -
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