| Variant ID | 29690 |
|---|---|
| Entrez Gene ID | 91603 |
| Gene | ZNF830 (GeneCards) |
| Location | hg19 17:33289423-33289423
hg38 17:34962404-34962404 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000017.10:g.33289423 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7076 |
| CADD Raw score (version 1.3) | 5.265824 (Deleterious) |
| FATHMM raw prediction score | 0.94774 (Tolerated) |
| SIFT score | 0.105 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.999 (Deleterious) |
| MutatioinAssessor score | 2.125 (Deleterious) |
| PROVEAN score | -1.11 (Tolerated) |
| MetaSVM score | -1.167 (Tolerated) |
| MetaLR score | 0.073 (Tolerated) |
| MCAP score | 0.006 (Tolerated) |
| FitCons score | 0.628 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.08 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.609 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.163 |
| Deleterious probability by iFish2 | 0.5967 (Deleterious) |
| Deleterious probability by DeFine | 0.9631 (Deleterious) |
| Entrez Gene ID | 91603 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNF830 (GeneCards) |
| Number of variants in ZNF830 in this database | 1 (view all the variants) |
| Full name | zinc finger protein 830 |
| Band | 17q12 |
| Other IDs | Vega: OTTHUMG00000179771 HGNC: HGNC:28291 Ensembl: ENSG00000198783 |
| Other names | OMCG1, CCDC16 |
| Summary | None |
| Individual ID | 28714951.366 (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; |