| Variant ID | 1103 |
|---|---|
| Entrez Gene ID | 55063 |
| Gene | ZCWPW1 (GeneCards) |
| Location | hg19 7:99998795-99998795
hg38 7:100401172-100401172 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000007.13:g.99998795 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 597 |
| Amino acid changes in protein | Q > * |
| 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 | 0.1979 |
| CADD Raw score (version 1.3) | 7.346484 (Deleterious) |
| FATHMM raw prediction score | 0.24028 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.576 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.595 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.005 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 2.786 |
| Deleterious probability by DeFine | 0.7982 (Deleterious) |
| Entrez Gene ID | 55063 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZCWPW1 (GeneCards) |
| Number of variants in ZCWPW1 in this database | 2 (view all the variants) |
| Full name | zinc finger CW-type and PWWP domain containing 1 |
| Band | 7q22.1 |
| Other IDs | Vega: OTTHUMG00000159537 HGNC: HGNC:23486 Ensembl: ENSG00000078487 |
| Other names | ZCW1 |
| 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; |