| Variant ID | 29638 |
|---|---|
| Entrez Gene ID | 9919 |
| Gene | SEC16A (GeneCards) |
| Location | hg19 9:139371117-139371117
hg38 9:136476665-136476665 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000009.11:g.139371117 G>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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.022 |
| CADD Raw score (version 1.3) | -0.074884 (Deleterious) |
| FATHMM raw prediction score | 0.27701 (Tolerated) |
| Deleterious probability by DeFine | 0.7808 (Deleterious) |
| Entrez Gene ID | 9919 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SEC16A (GeneCards) |
| Number of variants in SEC16A in this database | 1 (view all the variants) |
| Full name | SEC16 homolog A, endoplasmic reticulum export factor |
| Band | 9q34.3 |
| Other IDs | Vega: OTTHUMG00000020932 OMIM: 612854 HGNC: HGNC:29006 Ensembl: ENSG00000148396 |
| Other names | p250, SEC16L, KIAA0310 |
| Summary | This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Feb 2013] |
| Individual ID | 28714951.314 (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; |