| Variant ID | 1532 |
|---|---|
| Entrez Gene ID | 10590 |
| Gene | SCGN (GeneCards) |
| Location | hg19 6:25701491-25701491
hg38 6:25701263-25701263 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000006.11:g.25701491_25701491 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_006998.3 |
| mRNA length | 1492 |
| Reference length | 171115067 |
| Deleterious probability by DeFine | 0.9581 (Deleterious) |
|---|
| Entrez Gene ID | 10590 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SCGN (GeneCards) |
| Number of variants in SCGN in this database | 2 (view all the variants) |
| Full name | secretagogin, EF-hand calcium binding protein |
| Band | 6p22.2 |
| Other IDs | Vega: OTTHUMG00000014409 OMIM: 609202 HGNC: HGNC:16941 Ensembl: ENSG00000079689 |
| Other names | SEGN, CALBL, SECRET, setagin, DJ501N12.8 |
| Summary | The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated calcium flux and cell proliferation. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.81 (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; |