| Variant ID | 29544 |
|---|---|
| Entrez Gene ID | 2312 |
| Gene | FLG (GeneCards) |
| Location | hg19 1:152281464-152281464
hg38 1:152308988-152308988 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.152281464 A>G (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4953 |
| CADD Raw score (version 1.3) | -0.431002 (Deleterious) |
| FATHMM raw prediction score | 0.04098 (Tolerated) |
| Deleterious probability by DeFine | 0.7253 (Deleterious) |
| Entrez Gene ID | 2312 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FLG (GeneCards) |
| Number of variants in FLG in this database | 1 (view all the variants) |
| Full name | filaggrin |
| Band | 1q21.3 |
| Other IDs | Vega: OTTHUMG00000012202 OMIM: 135940 HGNC: HGNC:3748 Ensembl: ENSG00000143631 |
| Other names | ATOD2 |
| Summary | The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] |
| Individual ID | 28714951.220 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |