| Variant ID | 19220 |
|---|---|
| Entrez Gene ID | 57188 |
| Gene | ADAMTSL3 (GeneCards) |
| Location | hg19 15:84440303-84440303
hg38 15:83771551-83771551 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.84440303 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2054 |
| CADD Raw score (version 1.3) | 0.052545 (Deleterious) |
| FATHMM raw prediction score | 0.07823 (Tolerated) |
| Deleterious probability by DeFine | 0.2008 (Neutral) |
| Entrez Gene ID | 57188 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADAMTSL3 (GeneCards) |
| Number of variants in ADAMTSL3 in this database | 2 (view all the variants) |
| Full name | ADAMTS like 3 |
| Band | 15q25.2 |
| Other IDs | Vega: OTTHUMG00000147363 OMIM: 609199 HGNC: HGNC:14633 Ensembl: ENSG00000156218 |
| Other names | ADAMTSL-3 |
| Summary | None |
| Individual ID | 29217584.17 (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; |