| Variant ID | 1018 |
|---|---|
| Entrez Gene ID | 143884 |
| Gene | CWF19L2 (GeneCards) |
| Location | hg19 11:107300088-107300088
hg38 11:107429362-107429362 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000011.9:g.107300088 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 290 |
| Amino acid changes in protein | P > P |
| 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 | 0.3637 |
| CADD Raw score (version 1.3) | 0.624245 (Deleterious) |
| FATHMM raw prediction score | 0.18365 (Tolerated) |
| Deleterious probability by DeFine | 0.7213 (Deleterious) |
| Entrez Gene ID | 143884 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CWF19L2 (GeneCards) |
| Number of variants in CWF19L2 in this database | 6 (view all the variants) |
| Full name | CWF19 like cell cycle control factor 2 |
| Band | 11q22.3 |
| Other IDs | Vega: OTTHUMG00000152975 HGNC: HGNC:26508 Ensembl: ENSG00000152404 |
| Other names | None |
| 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; |