| Variant ID | 19317 |
|---|---|
| Entrez Gene ID | 22801 |
| Gene | ITGA11 (GeneCards) |
| Location | hg19 15:68761188-68761188
hg38 15:68468849-68468849 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.68761188 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 | -0.2419 |
| CADD Raw score (version 1.3) | 0.178018 (Deleterious) |
| FATHMM raw prediction score | 0.09113 (Tolerated) |
| Deleterious probability by DeFine | 0.2056 (Neutral) |
| Entrez Gene ID | 22801 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ITGA11 (GeneCards) |
| Number of variants in ITGA11 in this database | 6 (view all the variants) |
| Full name | integrin subunit alpha 11 |
| Band | 15q23 |
| Other IDs | Vega: OTTHUMG00000172657 OMIM: 604789 HGNC: HGNC:6136 Ensembl: ENSG00000137809 |
| Other names | HsT18964 |
| Summary | This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008] |
| 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; |