| Variant ID | 1067 |
|---|---|
| Entrez Gene ID | 9473 |
| Gene | THEMIS2 (GeneCards) |
| Location | hg19 1:28199103-28199103
hg38 1:27872592-27872592 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.28199103 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 7 |
| Amino acid changes in protein | Q > Q |
| 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 | 1.1667 |
| CADD Raw score (version 1.3) | -0.010418 (Deleterious) |
| FATHMM raw prediction score | 0.90737 (Tolerated) |
| Deleterious probability by DeFine | 0.976 (Deleterious) |
| Entrez Gene ID | 9473 (NCBI Gene) |
|---|---|
| Official Gene Symbol | THEMIS2 (GeneCards) |
| Number of variants in THEMIS2 in this database | 1 (view all the variants) |
| Full name | thymocyte selection associated family member 2 |
| Band | 1p35.3 |
| Other IDs | Vega: OTTHUMG00000003735 OMIM: 617856 HGNC: HGNC:16839 Ensembl: ENSG00000130775 |
| Other names | ICB1, ICB-1, C1orf38 |
| 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; |