| Variant ID | 14699 |
|---|---|
| Entrez Gene ID | 55118 |
| Gene | CRTAC1 (GeneCards) |
| Location | hg19 10:99880347-99880347
hg38 10:98120590-98120590 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.99880347 G>A (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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2938 |
| CADD Raw score (version 1.3) | 0.262204 (Deleterious) |
| FATHMM raw prediction score | 0.13422 (Tolerated) |
| Deleterious probability by DeFine | 0.0822 (Neutral) |
| Entrez Gene ID | 55118 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CRTAC1 (GeneCards) |
| Number of variants in CRTAC1 in this database | 3 (view all the variants) |
| Full name | cartilage acidic protein 1 |
| Band | 10q24.2 |
| Other IDs | Vega: OTTHUMG00000018871 OMIM: 606276 HGNC: HGNC:14882 Ensembl: ENSG00000095713 |
| Other names | ASPIC, CEP68, LOTUS, ASPIC1, CEP-68 |
| Summary | This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] |
| Individual ID | 29217584.15 (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; |