GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Alexander Disease(Fibrinoid leukodystrophy) 
An Autosomal dominant mode(s) within the Neurodegenerative disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 GFAP/2670 glial fibrillary acidic protein 17q21.31 Chr17, NC_000017.11
(44903159..44915500, complement)
12342 nt 10 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information    
Disorder Cross-References:      Orphanet          OMIM                    GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

Patient care services
Clinical Symptoms & Disabilities