| Variant ID | 1007 |
|---|---|
| Entrez Gene ID | 619279 |
| Gene | ZNF704 (GeneCards) |
| Location | hg19 8:81605285-81605285
hg38 8:80693050-80693050 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000008.10:g.81605285 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 93 |
| Amino acid changes in protein | S > S |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.3046 |
| CADD Raw score (version 1.3) | 1.586828 (Deleterious) |
| FATHMM raw prediction score | 0.96862 (Tolerated) |
| Deleterious probability by DeFine | 0.9087 (Deleterious) |
| Entrez Gene ID | 619279 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNF704 (GeneCards) |
| Number of variants in ZNF704 in this database | 2 (view all the variants) |
| Full name | zinc finger protein 704 |
| Band | 8q21.13 |
| Other IDs | Vega: OTTHUMG00000164733 HGNC: HGNC:32291 Ensembl: ENSG00000164684 |
| Other names | Gig1 |
| Summary | None |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |