| Variant ID | 8911 |
|---|---|
| Entrez Gene ID | 10590 |
| Gene | SCGN (GeneCards) |
| Location | hg19 6:25662745-25662745
hg38 6:25662517-25662517 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.25662745 C>T (Genome Assembly: GRCh37) |
| 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2351 |
| CADD Raw score (version 1.3) | -0.212094 (Deleterious) |
| FATHMM raw prediction score | 0.10564 (Tolerated) |
| Deleterious probability by DeFine | 0.2803 (Neutral) |
| 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 | 29217584.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |