| Variant ID | 17043 |
|---|---|
| Entrez Gene ID | 80070 |
| Gene | ADAMTS20 (GeneCards) |
| Location | hg19 12:44042011-44042011
hg38 12:43648208-43648208 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.44042011 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0095 |
| CADD Raw score (version 1.3) | 0.115137 (Deleterious) |
| FATHMM raw prediction score | 0.14804 (Tolerated) |
| Deleterious probability by DeFine | 0.2128 (Neutral) |
| Entrez Gene ID | 80070 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADAMTS20 (GeneCards) |
| Number of variants in ADAMTS20 in this database | 5 (view all the variants) |
| Full name | ADAM metallopeptidase with thrombospondin type 1 motif 20 |
| Band | 12q12 |
| Other IDs | Vega: OTTHUMG00000169353 OMIM: 611681 HGNC: HGNC:17178 Ensembl: ENSG00000173157 |
| Other names | GON-1, ADAM-TS20, ADAMTS-20 |
| Summary | The protein encoded by this gene is a member of the ADAMTS family of zinc-dependent proteases. The encoded protein has a signal peptide that is cleaved to release the mature peptide, which is secreted and found in the extracellular matrix. This protein may be involved in tissue remodeling. [provided by RefSeq, Sep 2011] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |