| Variant ID | 17882 |
|---|---|
| Entrez Gene ID | 9358 |
| Gene | ITGBL1 (GeneCards) |
| Location | hg19 13:102138098-102138098
hg38 13:101485747-101485747 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.102138098 A>G (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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.7327 |
| CADD Raw score (version 1.3) | -0.365478 (Deleterious) |
| FATHMM raw prediction score | 0.04084 (Tolerated) |
| Deleterious probability by DeFine | 0.2044 (Neutral) |
| Entrez Gene ID | 9358 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ITGBL1 (GeneCards) |
| Number of variants in ITGBL1 in this database | 5 (view all the variants) |
| Full name | integrin subunit beta like 1 |
| Band | 13q33.1 |
| Other IDs | Vega: OTTHUMG00000017296 OMIM: 604234 HGNC: HGNC:6164 Ensembl: ENSG00000198542 |
| Other names | OSCP, TIED |
| Summary | This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] |
| Individual ID | 29217584.20 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |