Individual #00006396

Reference Adriano Chiò, Gabriella Restagno, Maura Brunetti, et al. (2012)
Ethnic origin Sardinian
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


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006420 ? ? C9orf72, TARDBP 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     
1 Unknown ?/. g.11082610G>A Adriano Chiò, Gabriella Restagno, Maura Brunetti, et al. (2012) TARDBP_000013 - XY Liu TARDBP 6 NM_007375.3:c.1144G>A r.(1144g>a) p.(Ala382Thr) - -
9 Unknown ?/. g.27573527GGCCCC[?] Adriano Chiò, Gabriella Restagno, Maura Brunetti, et al. (2012) C9orf72_000007 - XY Liu C9orf72 1i NM_001256054.3:c.-45+168CGGGGC[?] r.(?) p.(?) - -
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