| Variant ID | 914 |
|---|---|
| Entrez Gene ID | 79098 |
| Gene | C1orf116 (GeneCards) |
| Location | hg19 1:207196098-207196098
hg38 1:207022753-207022753 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.207196098 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 337 |
| Amino acid changes in protein | S > S |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0976 |
| CADD Raw score (version 1.3) | -0.603053 (Deleterious) |
| FATHMM raw prediction score | 0.16459 (Tolerated) |
| Deleterious probability by DeFine | 0.861 (Deleterious) |
| Entrez Gene ID | 79098 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C1orf116 (GeneCards) |
| Number of variants in C1orf116 in this database | 1 (view all the variants) |
| Full name | chromosome 1 open reading frame 116 |
| Band | 1q32.1 |
| Other IDs | Vega: OTTHUMG00000036580 OMIM: 611680 HGNC: HGNC:28667 Ensembl: ENSG00000182795 |
| Other names | SARG |
| 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; |