| Variant ID | 21137 |
|---|---|
| Entrez Gene ID | 128821 |
| Gene | CST9L (GeneCards) |
| Location | hg19 20:23568527-23568527
hg38 20:23587890-23587890 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.23568527 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003234 |
|---|---|
| EIGEN score | -0.1975 |
| CADD Raw score (version 1.3) | 0.183356 (Deleterious) |
| FATHMM raw prediction score | 0.13957 (Tolerated) |
| Deleterious probability by DeFine | 0.4945 (Neutral) |
| Entrez Gene ID | 128821 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CST9L (GeneCards) |
| Number of variants in CST9L in this database | 2 (view all the variants) |
| Full name | cystatin 9 like |
| Band | 20p11.21 |
| Other IDs | Vega: OTTHUMG00000032073 OMIM: 616536 HGNC: HGNC:16233 Ensembl: ENSG00000101435 |
| Other names | CTES7B, bA218C14.1 |
| Summary | The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to mouse cystatin 9. Based on its testis-specific expression, it is likely to have a role in tissue reorganization during early testis development. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (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; |