| Variant ID | 29628 |
|---|---|
| Entrez Gene ID | 9117 |
| Gene | SEC22C (GeneCards) |
| Location | hg19 3:42610365-42610365
hg38 3:42568873-42568873 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000003.11:g.42610365 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.1429 |
| CADD Raw score (version 1.3) | 0.791673 (Deleterious) |
| FATHMM raw prediction score | 0.9329 (Tolerated) |
| Deleterious probability by DeFine | 0.8496 (Deleterious) |
| Entrez Gene ID | 9117 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SEC22C (GeneCards) |
| Number of variants in SEC22C in this database | 1 (view all the variants) |
| Full name | SEC22 homolog C, vesicle trafficking protein |
| Band | 3p22.1 |
| Other IDs | Vega: OTTHUMG00000131797 OMIM: 604028 HGNC: HGNC:16828 Ensembl: ENSG00000093183 |
| Other names | SEC22L3 |
| Summary | This gene encodes a member of the SEC22 family of vesicle trafficking proteins. The encoded protein is localized to the endoplasmic reticulum and may play a role in the early stages of ER-Golgi protein trafficking. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] |
| Individual ID | 28714951.304 (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; |