| Variant ID | 20980 |
|---|---|
| Entrez Gene ID | 23211 |
| Gene | ZC3H4 (GeneCards) |
| Location | hg19 19:47571645-47571645
hg38 19:47068388-47068388 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000019.9:g.47571645 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003231 |
|---|---|
| EIGEN score | 0.223 |
| CADD Raw score (version 1.3) | 0.108271 (Deleterious) |
| FATHMM raw prediction score | 0.20948 (Tolerated) |
| Deleterious probability by DeFine | 0.7577 (Deleterious) |
| Entrez Gene ID | 23211 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZC3H4 (GeneCards) |
| Number of variants in ZC3H4 in this database | 2 (view all the variants) |
| Full name | zinc finger CCCH-type containing 4 |
| Band | 19q13.32 |
| Other IDs | Vega: OTTHUMG00000183442 HGNC: HGNC:17808 Ensembl: ENSG00000130749 |
| Other names | C19orf7 |
| Summary | This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011] |
| Individual ID | 29217584.13 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |