| Variant ID | 19400 |
|---|---|
| Entrez Gene ID | 170692 |
| Gene | ADAMTS18 (GeneCards) |
| Location | hg19 16:77579384-77579384
hg38 16:77545487-77545487 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.77579384 T>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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3829 |
| CADD Raw score (version 1.3) | 0.746558 (Deleterious) |
| FATHMM raw prediction score | 0.14935 (Tolerated) |
| Deleterious probability by DeFine | 0.4476 (Neutral) |
| Entrez Gene ID | 170692 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADAMTS18 (GeneCards) |
| Number of variants in ADAMTS18 in this database | 68 (view all the variants) |
| Full name | ADAM metallopeptidase with thrombospondin type 1 motif 18 |
| Band | 16q23.1 |
| Other IDs | Vega: OTTHUMG00000137619 OMIM: 607512 HGNC: HGNC:17110 Ensembl: ENSG00000140873 |
| Other names | KNO2, MMCAT, ADAMTS21 |
| Summary | This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016] |
| Individual ID | 29217584.05 (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; |