| Variant ID | 29576 |
|---|---|
| Entrez Gene ID | 56242 |
| Gene | ZNF253 (GeneCards) |
| Location | hg19 19:20003524-20003524
hg38 19:19892715-19892715 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000019.9:g.20003524 A>T (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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.8845 |
| CADD Raw score (version 1.3) | 3.026969 (Deleterious) |
| FATHMM raw prediction score | 0.00007 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.73 (Tolerated) |
| MetaSVM score | -1.067 (Tolerated) |
| MetaLR score | 0.039 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.415 |
| PhyloP score based on multiple alignment of 100 vertebrates | -2.052 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 2.619 |
| Deleterious probability by iFish2 | 0.0205 (Neutral) |
| Deleterious probability by DeFine | 0.2562 (Neutral) |
| Entrez Gene ID | 56242 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNF253 (GeneCards) |
| Number of variants in ZNF253 in this database | 1 (view all the variants) |
| Full name | zinc finger protein 253 |
| Band | 19p13.11 |
| Other IDs | Vega: OTTHUMG00000182369 OMIM: 606954 HGNC: HGNC:13497 Ensembl: ENSG00000256771 |
| Other names | BMZF1, BMZF-1, ZNF411 |
| Summary | None |
| Individual ID | 28714951.252 (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; |