Individual #00000006

Reference Hirayama T, Fukae J, Noda K, Fujishima K, Yamamoto T, Mori K, Maeda M, Hattori N, Shiroma N, Tsurui S, Okuma Y.(2008)
Ethnic origin -
Remarks -
Panel size 1
Diseases ALXDRD
Owner name Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang


Phenotypes

Alexander Disease (ALXDRD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000014 Adult-onset Alexander disease with palatal myoclonus and intraventricular tumour - XY Liu



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000006 ? ? GFAP 1 Y Yang



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.42988605G>A Hirayama T, Fukae J, Noda K, Fujishima K, Yamamoto T, Mori K, Maeda M, Hattori N, Shiroma N, Tsurui S, Okuma Y.(2008) GFAP_000017 - Y Yang GFAP 6 NM_002055.4:c.1126C>T r.(?) p.(Arg376Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
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