| Variant ID | 29156 |
|---|---|
| Entrez Gene ID | 57719 |
| Gene | ANO8 (GeneCards) |
| Location | hg19 19:17441782-17441782
hg38 19:17330973-17330973 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000019.9:g.17441782 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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 | 0.2199 |
| CADD Raw score (version 1.3) | 2.459908 (Deleterious) |
| FATHMM raw prediction score | 0.90912 (Tolerated) |
| SIFT score | 0.754 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.856 (Deleterious) |
| MutatioinAssessor score | 1.17 (Tolerated) |
| PROVEAN score | -1.47 (Tolerated) |
| MetaSVM score | -0.744 (Tolerated) |
| MetaLR score | 0.23 (Tolerated) |
| MCAP score | 0.09 (Deleterious) |
| FitCons score | 0.635 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.51 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.057 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.104 |
| Deleterious probability by iFish2 | 0.8608 (Deleterious) |
| Deleterious probability by DeFine | 0.9386 (Deleterious) |
| Entrez Gene ID | 57719 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ANO8 (GeneCards) |
| Number of variants in ANO8 in this database | 2 (view all the variants) |
| Full name | anoctamin 8 |
| Band | 19p13.11 |
| Other IDs | Vega: OTTHUMG00000182665 OMIM: 610216 HGNC: HGNC:29329 Ensembl: ENSG00000074855 |
| Other names | TMEM16H, KIAA1623 |
| Summary | None |
| Individual ID | 28503910.33 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| 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; |