| Variant ID | 8474 |
|---|---|
| Entrez Gene ID | 81792 |
| Gene | ADAMTS12 (GeneCards) |
| Location | hg19 5:33822536-33822536
hg38 5:33822431-33822431 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.33822536 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2359 |
| CADD Raw score (version 1.3) | 0.534794 (Deleterious) |
| FATHMM raw prediction score | 0.0763 (Tolerated) |
| Deleterious probability by DeFine | 0.4779 (Neutral) |
| Entrez Gene ID | 81792 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADAMTS12 (GeneCards) |
| Number of variants in ADAMTS12 in this database | 8 (view all the variants) |
| Full name | ADAM metallopeptidase with thrombospondin type 1 motif 12 |
| Band | 5p13.3-p13.2 |
| Other IDs | Vega: OTTHUMG00000162088 OMIM: 606184 HGNC: HGNC:14605 Ensembl: ENSG00000151388 |
| Other names | PRO4389 |
| Summary | This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008] |
| 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; |