Individual #00006332

Reference Laura E Cox, Laura Ferraiuolo, Emily F Goodall, et al.
Ethnic origin English
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     
0000006355 ? ? CHMP2B 1 XY Liu



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     
3 Unknown +/. g.87302953A>C Laura E Cox, Laura Ferraiuolo, Emily F Goodall, et al. CHMP2B_000008 - XY Liu CHMP2B 6 NM_014043.3:c.623A>C r.(623a>c) p.(Lys208Thr) - -
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