| Variant ID | 23560 |
|---|---|
| Entrez Gene ID | 119710 |
| Gene | C11orf74 (GeneCards) |
| Location | hg19 11:37257233-37257233
hg38 11:37235683-37235683 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000011.9:g.37257233 A>C (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 | -0.1846 |
| CADD Raw score (version 1.3) | -0.444901 (Deleterious) |
| FATHMM raw prediction score | 0.11218 (Tolerated) |
| Deleterious probability by DeFine | 0.8107 (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 | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |