| Variant ID | 7138 |
|---|---|
| Entrez Gene ID | 7092 |
| Gene | TLL1 (GeneCards) |
| Location | hg19 4:167638225-167638225
hg38 4:166717074-166717074 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.167638225 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1966 |
| CADD Raw score (version 1.3) | -0.120518 (Deleterious) |
| FATHMM raw prediction score | 0.14096 (Tolerated) |
| Deleterious probability by DeFine | 0.077 (Neutral) |
| Entrez Gene ID | 7092 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TLL1 (GeneCards) |
| Number of variants in TLL1 in this database | 10 (view all the variants) |
| Full name | tolloid like 1 |
| Band | 4q32.3 |
| Other IDs | Vega: OTTHUMG00000161112 OMIM: 606742 HGNC: HGNC:11843 Ensembl: ENSG00000038295 |
| Other names | TLL, ASD6 |
| Summary | This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] |
| 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; |