Individual #00006549

Reference Orly Goldstein, et al. (2019)
Ethnic origin North-Africa Jewish
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     
0000006572 ? ? MFN2 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     
1 Both (homozygous) +?/. g.12067224C>T Orly Goldstein, et al. (2019) MFN2_000026 - XY Liu MFN2 17 NM_014874.3:c.1987C>T r.(1987c>u) p.(Arg663Cys) - -
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