Individual #00006162

Reference D Vázquez-Justes, J Peñalva-García, R López, R Mitjana, R Begue, C González-Mingot
Ethnic origin -
Remarks -
Panel size 1
Diseases ALXDRD
Owner name XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu


Phenotypes

Alexander Disease (ALXDRD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000040 Parkinsonism phenotype in a family with adult onset Alexander disease - XY Liu



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006184 ? ? GFAP 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     
17 Unknown ?/. g.42991103T>C D Vázquez-Justes, J Peñalva-García, R López, R Mitjana, R Begue, C González-Mingot GFAP_000098 - XY Liu GFAP 3 NM_002055.4:c.611A>G r.(611a>g) p.His204Arg - -
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