| Variant ID | 15816 |
|---|---|
| Entrez Gene ID | 119710 |
| Gene | C11orf74 (GeneCards) |
| Location | hg19 11:37026288-37026288
hg38 11:37004738-37004738 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.37026288 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1568 |
| CADD Raw score (version 1.3) | -0.119325 (Deleterious) |
| FATHMM raw prediction score | 0.14095 (Tolerated) |
| Deleterious probability by DeFine | 0.525 (Deleterious) |
| Entrez Gene ID | 119710 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C11orf74 (GeneCards) |
| Number of variants in C11orf74 in this database | 26 (view all the variants) |
| Full name | chromosome 11 open reading frame 74 |
| Band | 11p12 |
| Other IDs | Vega: OTTHUMG00000166397 HGNC: HGNC:25142 Ensembl: ENSG00000166352 |
| Other names | NWC, HEPIS |
| Summary | This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] |
| Individual ID | 29217584.17 (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; |