GFAP Chromosome 17
Glial fibrillary acidic protein
Upload your DNA to see your personal genotypes for variants in GFAP.
What This Gene Does
This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Intermediate filaments Type III
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000131095
Associated Conditions (10)
Alexander disease
Inborn genetic diseases
Hereditary spastic paraplegia
GFAP-related disorder
Scoliosis
Progressive ventriculomegaly
Spastic paraplegia
intellectual disability
nystagmus
and obesity
Key Variants
RS1185404768
Conflicting classifications of pathogenicity
Alexander disease, Alexander disease
Health Risk
RS146725018
Conflicting classifications of pathogenicity
Inborn genetic diseases, Alexander disease, Inborn genetic diseases
Health Risk
RS147282497
Conflicting classifications of pathogenicity
Alexander disease, Alexander disease
Health Risk
RS148887665
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia
Health Risk
RS149353780
Conflicting classifications of pathogenicity
Health Risk
RS149883728
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151327900
Conflicting classifications of pathogenicity
Health Risk
RS1555574517
Conflicting classifications of pathogenicity
Health Risk
RS1567778698
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS180974014
Conflicting classifications of pathogenicity
Alexander disease, Alexander disease
Health Risk
RS201382676
Conflicting classifications of pathogenicity
GFAP-related disorder, GFAP-related disorder
Health Risk
RS201959936
Conflicting classifications of pathogenicity
Health Risk
All Variants (83)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2145632673 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS2145642617 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS2508951149 | Health Risk | Pathogenic | GFAP-related disorder, GFAP-related disorder |
| RS267607508 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS267607511 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS267607512 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS267607514 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS28932769 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS57120761 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS57590980 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS58008462 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS58064122 | Health Risk | Pathogenic | Alexander disease, GFAP-related disorder, Alexander disease |
| RS58075601 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS58732244 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS59285727 | Health Risk | Pathogenic | Alexander disease, Alexander disease, Alexander disease |
| RS59565950 | Health Risk | Pathogenic | Alexander disease, Spastic paraplegia, intellectual disability |
| RS59793293 | Health Risk | Pathogenic | Alexander disease, Alexander disease, Alexander disease |
| RS60269890 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS60343255 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS61060395 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS61622935 | Health Risk | Pathogenic | Alexander disease, Alexander disease, Alexander disease |
| RS61726470 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS61726471 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS62636501 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS797044571 | Health Risk | Pathogenic | — |
| RS797044578 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS797044579 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS797044581 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS797044582 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS797044588 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS797044592 | Health Risk | Pathogenic | Alexander disease, Alexander disease |
| RS267607509 | Health Risk | Pathogenic/Likely pathogenic | Alexander disease, Alexander disease |
| RS797044590 | Health Risk | Pathogenic/Likely pathogenic | Alexander disease, Alexander disease |