| Variant ID | 11359 |
|---|---|
| Entrez Gene ID | 56829 |
| Gene | ZC3HAV1 (GeneCards) |
| Location | hg19 7:138788835-138788835
hg38 7:139104089-139104089 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.138788835 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0293 |
| CADD Raw score (version 1.3) | 0.037875 (Deleterious) |
| FATHMM raw prediction score | 0.12048 (Tolerated) |
| Deleterious probability by DeFine | 0.3169 (Neutral) |
| Entrez Gene ID | 56829 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZC3HAV1 (GeneCards) |
| Number of variants in ZC3HAV1 in this database | 2 (view all the variants) |
| Full name | zinc finger CCCH-type containing, antiviral 1 |
| Band | 7q34 |
| Other IDs | Vega: OTTHUMG00000157471 OMIM: 607312 HGNC: HGNC:23721 Ensembl: ENSG00000105939 |
| Other names | ZAP, ZC3H2, ARTD13, PARP13, FLB6421, ZC3HDC2 |
| Summary | This gene encodes a CCCH-type zinc finger protein that is thought to prevent infection by retroviruses. Studies of the rat homolog indicate that the protein may primarily function to inhibit viral gene expression and induce an innate immunity to viral infection. Alternative splicing occurs at this locus and two variants, each encoding distinct isoforms, are described. [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; |