| Variant ID | 14730 |
|---|---|
| Entrez Gene ID | 3688 |
| Gene | ITGB1 (GeneCards) |
| Location | hg19 10:33215731-33215731
hg38 10:32926803-32926803 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.33215731 C>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0616 |
| CADD Raw score (version 1.3) | 0.089059 (Deleterious) |
| FATHMM raw prediction score | 0.15084 (Tolerated) |
| Deleterious probability by DeFine | 0.5458 (Deleterious) |
| Entrez Gene ID | 3688 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ITGB1 (GeneCards) |
| Number of variants in ITGB1 in this database | 2 (view all the variants) |
| Full name | integrin subunit beta 1 |
| Band | 10p11.22 |
| Other IDs | Vega: OTTHUMG00000017928 OMIM: 135630 HGNC: HGNC:6153 Ensembl: ENSG00000150093 |
| Other names | CD29, FNRB, MDF2, VLAB, GPIIA, MSK12, VLA-BETA |
| Summary | Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| 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; |