| Variant ID | 21028 |
|---|---|
| Entrez Gene ID | 54869 |
| Gene | EPS8L1 (GeneCards) |
| Location | hg19 19:55594013-55594013
hg38 19:55082645-55082645 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000019.9:g.55594013 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7572 |
| CADD Raw score (version 1.3) | 0.840905 (Deleterious) |
| FATHMM raw prediction score | 0.29622 (Tolerated) |
| Deleterious probability by DeFine | 0.7118 (Deleterious) |
| Entrez Gene ID | 54869 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EPS8L1 (GeneCards) |
| Number of variants in EPS8L1 in this database | 1 (view all the variants) |
| Full name | EPS8 like 1 |
| Band | 19q13.42 |
| Other IDs | Vega: OTTHUMG00000180513 OMIM: 614987 HGNC: HGNC:21295 Ensembl: ENSG00000131037 |
| Other names | DRC3, EPS8R1, PP10566 |
| 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. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (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; |