| Variant ID | 25856 |
|---|---|
| Entrez Gene ID | 81792 |
| Gene | ADAMTS12 (GeneCards) |
| Location | hg19 5:33631148-33631148
hg38 5:33631043-33631043 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000005.9:g.33631148 G>C (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 | 0.1663 |
| CADD Raw score (version 1.3) | -0.304519 (Deleterious) |
| FATHMM raw prediction score | 0.19328 (Tolerated) |
| Deleterious probability by DeFine | 0.7134 (Deleterious) |
| 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 | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |