Individual #00006144

Reference Takafumi Sakakibara, Yukihiro Takahashi, Kazuyoshi Fukuda, et al.
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     
0000000010 We encountered a male infant with infantile Alexander disease presenting with megalencephaly and hydrocephalus as a neonate and subtle seizures at 3 months of age. At 6 months of age, bulbar paralysis appeared. - XY Liu



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006166 ? ? 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.42990701C>T Takafumi Sakakibara, Yukihiro Takahashi, Kazuyoshi Fukuda, et al. GFAP_000008 - XY Liu GFAP 4 NM_002055.4:c.(716G>A) r.(716g>a) p.Arg239His - -
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