| Variant ID | 972 |
|---|---|
| Entrez Gene ID | 339778 |
| Gene | C2orf70 (GeneCards) |
| Location | hg19 2:26802300-26802300
hg38 2:26579432-26579432 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.26802300 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 200 |
| Amino acid changes in protein | R > R |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0652 |
| CADD Raw score (version 1.3) | 0.071277 (Deleterious) |
| FATHMM raw prediction score | 0.94917 (Tolerated) |
| Deleterious probability by DeFine | 0.8839 (Deleterious) |
| Entrez Gene ID | 339778 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C2orf70 (GeneCards) |
| Number of variants in C2orf70 in this database | 1 (view all the variants) |
| Full name | chromosome 2 open reading frame 70 |
| Band | 2p23.3 |
| Other IDs | Vega: OTTHUMG00000151994 HGNC: HGNC:27938 Ensembl: ENSG00000173557 |
| 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; |