| Variant ID | 10142 |
|---|---|
| Entrez Gene ID | 346007 |
| Gene | EYS (GeneCards) |
| Location | hg19 6:66152900-66152900
hg38 6:65443007-65443007 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.66152900 C>T (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0093 |
| CADD Raw score (version 1.3) | -0.011998 (Deleterious) |
| FATHMM raw prediction score | 0.81231 (Tolerated) |
| Deleterious probability by DeFine | 0.1057 (Neutral) |
| Entrez Gene ID | 346007 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EYS (GeneCards) |
| Number of variants in EYS in this database | 28 (view all the variants) |
| Full name | eyes shut homolog (Drosophila) |
| Band | 6q12 |
| Other IDs | Vega: OTTHUMG00000014971 OMIM: 612424 HGNC: HGNC:21555 Ensembl: ENSG00000188107 |
| Other names | RP25, SPAM, EGFL10, EGFL11, C6orf178, C6orf179, C6orf180, bA74E24.1, dJ22I17.2, bA166P24.2, bA307F22.3, dJ1018A4.2, dJ303F19.1 |
| Summary | The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 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; |