| Variant ID | 8702 |
|---|---|
| Entrez Gene ID | 10085 |
| Gene | EDIL3 (GeneCards) |
| Location | hg19 5:83351946-83351946
hg38 5:84056127-84056127 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.83351946 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0938 |
| CADD Raw score (version 1.3) | 0.974585 (Deleterious) |
| FATHMM raw prediction score | 0.33252 (Tolerated) |
| Deleterious probability by DeFine | 0.0908 (Neutral) |
| Entrez Gene ID | 10085 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EDIL3 (GeneCards) |
| Number of variants in EDIL3 in this database | 30 (view all the variants) |
| Full name | EGF like repeats and discoidin domains 3 |
| Band | 5q14.3 |
| Other IDs | Vega: OTTHUMG00000119047 OMIM: 606018 HGNC: HGNC:3173 Ensembl: ENSG00000164176 |
| Other names | DEL1 |
| Summary | The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (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; |