| Variant ID | 29584 |
|---|---|
| Entrez Gene ID | 157697 |
| Gene | ERICH1 (GeneCards) |
| Location | hg19 8:618638-618638
hg38 8:668638-668638 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000008.10:g.618638 A>G (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | -1.6989 |
| CADD Raw score (version 1.3) | -0.869397 (Deleterious) |
| FATHMM raw prediction score | 0.09187 (Tolerated) |
| Deleterious probability by DeFine | 0.8675 (Deleterious) |
| Entrez Gene ID | 157697 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ERICH1 (GeneCards) |
| Number of variants in ERICH1 in this database | 2 (view all the variants) |
| Full name | glutamate rich 1 |
| Band | 8p23.3 |
| Other IDs | Vega: OTTHUMG00000129163 HGNC: HGNC:27234 Ensembl: ENSG00000104714 |
| Other names | HSPC319 |
| Summary | None |
| Individual ID | 28714951.260 (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; |