| Variant ID | 18039 |
|---|---|
| Entrez Gene ID | 1511 |
| Gene | CTSG (GeneCards) |
| Location | hg19 14:25052211-25052211
hg38 14:24583005-24583005 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.25052211 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2874 |
| CADD Raw score (version 1.3) | -0.078766 (Deleterious) |
| FATHMM raw prediction score | 0.07885 (Tolerated) |
| Deleterious probability by DeFine | 0.0799 (Neutral) |
| Entrez Gene ID | 1511 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CTSG (GeneCards) |
| Number of variants in CTSG in this database | 1 (view all the variants) |
| Full name | cathepsin G |
| Band | 14q12 |
| Other IDs | Vega: OTTHUMG00000140182 OMIM: 116830 HGNC: HGNC:2532 Ensembl: ENSG00000100448 |
| Other names | CG, CATG |
| Summary | The protein encoded by this gene, a member of the peptidase S1 protein family, is found in azurophil granules of neutrophilic polymorphonuclear leukocytes. The encoded protease has a specificity similar to that of chymotrypsin C, and may participate in the killing and digestion of engulfed pathogens, and in connective tissue remodeling at sites of inflammation. In addition, the encoded protein is antimicrobial, with bacteriocidal activity against S. aureus and N. gonorrhoeae. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Sep 2014] |
| 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; |