| Variant ID | 29489 |
|---|---|
| Entrez Gene ID | 100529855 |
| Gene | ZNF625-ZNF20 (GeneCards) |
| Location | hg19 19:12246720-12246720
hg38 19:12135905-12135905 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000019.9:g.12246720 C>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 | 0.0022 |
| CADD Raw score (version 1.3) | 0.381421 (Deleterious) |
| FATHMM raw prediction score | 0.20385 (Tolerated) |
| MutationTaster score | 0.991 (Tolerated) |
| FitCons score | 0.156 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.173 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.38 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.108 |
| Deleterious probability by DeFine | 0.2257 (Neutral) |
| Entrez Gene ID | 100529855 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNF625-ZNF20 (GeneCards) |
| Number of variants in ZNF625-ZNF20 in this database | 1 (view all the variants) |
| Full name | ZNF625-ZNF20 readthrough (NMD candidate) |
| Band | 19p13.2 |
| Other IDs | HGNC: HGNC:48368 |
| Other names | None |
| Summary | This locus represents naturally occurring read-through transcription between the neighboring zinc finger protein 625 (ZNF625) and zinc finger protein 20 (ZNF20) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] |
| Individual ID | 28714951.165 (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; |