| Variant ID | 1344 |
|---|---|
| Entrez Gene ID | 56605 |
| Gene | ERO1LB (GeneCards) |
| Location | hg19 1:236389718-236389718
hg38 1:236226418-236226418 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000001.10:g.236389718_236389718 del (Genome Assembly: hg19) |
| 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 | NM_019891.3 |
| mRNA length | 185796 |
| Reference length | 249250621 |
| Deleterious probability by DeFine | 0.9455 (Deleterious) |
|---|
| Entrez Gene ID | 56605 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ERO1LB (GeneCards) |
| Number of variants in ERO1B in this database | 2 (view all the variants) |
| Full name | endoplasmic reticulum oxidoreductase 1 beta |
| Band | 1q42.3 |
| Other IDs | Vega: OTTHUMG00000039955 OMIM: 615437 HGNC: HGNC:14355 Ensembl: ENSG00000086619 |
| Other names | ERO1LB, Ero1beta |
| Summary | None |
| Individual ID | 28867142.97 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |