| Variant ID | 29640 |
|---|---|
| Entrez Gene ID | 283576 |
| Gene | ZDHHC22 (GeneCards) |
| Location | hg19 14:77600191-77600191
hg38 14:77133848-77133848 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000014.8:g.77600191 C>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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6366 |
| CADD Raw score (version 1.3) | 6.438053 (Deleterious) |
| FATHMM raw prediction score | 0.80888 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.07 (Deleterious) |
| PROVEAN score | -2.68 (Deleterious) |
| MetaSVM score | -0.882 (Tolerated) |
| MetaLR score | 0.151 (Tolerated) |
| MCAP score | 0.039 (Deleterious) |
| FitCons score | 0.632 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.27 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.721 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.272 |
| Deleterious probability by iFish2 | 0.6889 (Deleterious) |
| Deleterious probability by DeFine | 0.968 (Deleterious) |
| Entrez Gene ID | 283576 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZDHHC22 (GeneCards) |
| Number of variants in ZDHHC22 in this database | 1 (view all the variants) |
| Full name | zinc finger DHHC-type containing 22 |
| Band | 14q24.3 |
| Other IDs | Vega: OTTHUMG00000171575 HGNC: HGNC:20106 Ensembl: ENSG00000177108 |
| Other names | C14orf59 |
| Summary | None |
| Individual ID | 28714951.316 (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; |