| Variant ID | 2672 |
|---|---|
| Entrez Gene ID | 79574 |
| Gene | EPS8L3 (GeneCards) |
| Location | hg19 1:110310629-110310629
hg38 1:109768007-109768007 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.110310629 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0796 |
| CADD Raw score (version 1.3) | 0.087103 (Deleterious) |
| FATHMM raw prediction score | 0.13192 (Tolerated) |
| Deleterious probability by DeFine | 0.3875 (Neutral) |
| Entrez Gene ID | 79574 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EPS8L3 (GeneCards) |
| Number of variants in EPS8L3 in this database | 4 (view all the variants) |
| Full name | EPS8 like 3 |
| Band | 1p13.3 |
| Other IDs | Vega: OTTHUMG00000011651 OMIM: 614989 HGNC: HGNC:21297 Ensembl: ENSG00000198758 |
| Other names | EPS8R3 |
| Summary | This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.18 (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; |