| Variant ID | 869 |
|---|---|
| Entrez Gene ID | 387601 |
| Gene | SLC22A25 (GeneCards) |
| Location | hg19 11:62933714-62933714
hg38 11:63166242-63166242 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000011.9:g.62933714 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 363 |
| Amino acid changes in protein | P > S |
| 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 | -1.5962 |
| CADD Raw score (version 1.3) | -1.598185 (Deleterious) |
| FATHMM raw prediction score | 0.00695 (Tolerated) |
| SIFT score | 0.775 (Tolerated) |
| LRT score | 0.42 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.39 (Tolerated) |
| PROVEAN score | -2.99 (Deleterious) |
| MetaSVM score | -0.979 (Tolerated) |
| MetaLR score | 0.049 (Tolerated) |
| MCAP score | 0.002 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -5.06 |
| PhyloP score based on multiple alignment of 100 vertebrates | -2.118 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 0.48 |
| Deleterious probability by iFish2 | 0.0075 (Neutral) |
| Deleterious probability by DeFine | 0.7499 (Deleterious) |
| Entrez Gene ID | 387601 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC22A25 (GeneCards) |
| Number of variants in SLC22A25 in this database | 3 (view all the variants) |
| Full name | solute carrier family 22 member 25 |
| Band | 11q12.3 |
| Other IDs | Vega: OTTHUMG00000165340 OMIM: 610792 HGNC: HGNC:32935 Ensembl: ENSG00000196600 |
| Other names | UST6, HIMTP |
| Summary | None |
| Individual ID | 27788131.01 (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; |