| Variant ID | 8688 |
|---|---|
| Entrez Gene ID | 171019 |
| Gene | ADAMTS19 (GeneCards) |
| Location | hg19 5:128887426-128887426
hg38 5:129551733-129551733 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.128887426 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 | -0.2525 |
| CADD Raw score (version 1.3) | -0.10257 (Deleterious) |
| FATHMM raw prediction score | 0.08778 (Tolerated) |
| Deleterious probability by DeFine | 0.568 (Deleterious) |
| Entrez Gene ID | 171019 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADAMTS19 (GeneCards) |
| Number of variants in ADAMTS19 in this database | 6 (view all the variants) |
| Full name | ADAM metallopeptidase with thrombospondin type 1 motif 19 |
| Band | 5q23.3 |
| Other IDs | Vega: OTTHUMG00000128990 OMIM: 607513 HGNC: HGNC:17111 Ensembl: ENSG00000145808 |
| Other names | None |
| Summary | This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) 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) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |