Individual #00000552

Reference Andersen PM1, Nilsson P, Ker?nen ML, Forsgren L, H?gglund J, Karlsborg M, Ronnevi LO, Gredal O, Marklund SL.(1997)
Ethnic origin Scandinavian
Remarks -
Panel size 1
Diseases ALS
Owner name Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000000552 ? ? SOD1 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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21 Unknown ./. g.33039603A>C Andersen PM1, Nilsson P, Ker?nen ML, Forsgren L, H?gglund J, Karlsborg M, Ronnevi LO, Gredal O, Marklund SL.(1997) SOD1_000071 - Y Yang SOD1 4 NM_000454.4:c.272A>C r.(?) p.(Asp91Ala) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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