| Variant ID | 29460 |
|---|---|
| Entrez Gene ID | 2965 |
| Gene | GTF2H1 (GeneCards) |
| Location | hg19 11:18380128-18380128
hg38 11:18358581-18358581 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.18380128 G>A (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8155 |
| CADD Raw score (version 1.3) | 6.94668 (Deleterious) |
| FATHMM raw prediction score | 0.99169 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.905 (Deleterious) |
| PROVEAN score | -3.73 (Deleterious) |
| MetaSVM score | 0.021 (Deleterious) |
| MetaLR score | 0.476 (Tolerated) |
| MCAP score | 0.075 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.98 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.559 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.928 |
| Deleterious probability by iFish2 | 0.0609 (Neutral) |
| Deleterious probability by DeFine | 0.9584 (Deleterious) |
| Entrez Gene ID | 2965 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GTF2H1 (GeneCards) |
| Number of variants in GTF2H1 in this database | 3 (view all the variants) |
| Full name | general transcription factor IIH subunit 1 |
| Band | 11p15.1 |
| Other IDs | Vega: OTTHUMG00000167690 OMIM: 189972 HGNC: HGNC:4655 Ensembl: ENSG00000110768 |
| Other names | P62, BTF2, TFB1, TFIIH |
| Summary | None |
| Individual ID | 28714951.136 (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; |