| Variant ID | 29289 |
|---|---|
| Entrez Gene ID | 2975 |
| Gene | GTF3C1 (GeneCards) |
| Location | hg19 16:27483259-27483259
hg38 16:27471938-27471938 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000016.9:g.27483259 G>A (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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4802 |
| CADD Raw score (version 1.3) | -0.610089 (Deleterious) |
| FATHMM raw prediction score | 0.11156 (Tolerated) |
| Deleterious probability by DeFine | 0.6719 (Deleterious) |
| Entrez Gene ID | 2975 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GTF3C1 (GeneCards) |
| Number of variants in GTF3C1 in this database | 2 (view all the variants) |
| Full name | general transcription factor IIIC subunit 1 |
| Band | 16p12.1 |
| Other IDs | Vega: OTTHUMG00000176805 OMIM: 603246 HGNC: HGNC:4664 Ensembl: ENSG00000077235 |
| Other names | TFIIIC, TFIIIC220, TFIIICalpha |
| Summary | None |
| Individual ID | 28503910.166 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| 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; |