| Variant ID | 29232 |
|---|---|
| Entrez Gene ID | 2670 |
| Gene | GFAP (GeneCards) |
| Location | hg19 17:42988056-42988056
hg38 17:44910688-44910688 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000017.10:g.42988056 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0.0006 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs200064084 |
| EIGEN score | 0.5078 |
| CADD Raw score (version 1.3) | 0.374366 (Deleterious) |
| FATHMM raw prediction score | 0.16097 (Tolerated) |
| Deleterious probability by DeFine | 0.8623 (Deleterious) |
| Entrez Gene ID | 2670 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GFAP (GeneCards) |
| Number of variants in GFAP in this database | 1 (view all the variants) |
| Full name | glial fibrillary acidic protein |
| Band | 17q21.31 |
| Other IDs | Vega: OTTHUMG00000179866 OMIM: 137780 HGNC: HGNC:4235 Ensembl: ENSG00000131095 |
| Other names | ALXDRD |
| Summary | 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] |
| Individual ID | 28503910.109 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |