| Variant ID | 986 |
|---|---|
| Entrez Gene ID | 65010 |
| Gene | SLC26A6 (GeneCards) |
| Location | hg19 3:48669691-48669691
hg38 3:48632258-48632258 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.48669691 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 191 |
| Amino acid changes in protein | V > A |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2931 |
| CADD Raw score (version 1.3) | 0.920296 (Deleterious) |
| FATHMM raw prediction score | 0.30455 (Tolerated) |
| SIFT score | 1 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.945 (Deleterious) |
| PROVEAN score | 0.52 (Tolerated) |
| MetaSVM score | 0.049 (Deleterious) |
| MetaLR score | 0.767 (Deleterious) |
| MCAP score | 0.342 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.66 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.043 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.58 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.177 |
| Deleterious probability by iFish2 | 0.0792 (Neutral) |
| Deleterious probability by DeFine | 0.8772 (Deleterious) |
| Entrez Gene ID | 65010 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC26A6 (GeneCards) |
| Number of variants in SLC26A6 in this database | 1 (view all the variants) |
| Full name | solute carrier family 26 member 6 |
| Band | 3p21.31 |
| Other IDs | Vega: OTTHUMG00000186381 OMIM: 610068 HGNC: HGNC:14472 Ensembl: ENSG00000225697 |
| Other names | None |
| Summary | This gene belongs to the solute carrier 26 family, whose members encode anion transporter proteins. This particular family member encodes a protein involved in transporting chloride, oxalate, sulfate and bicarbonate. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2013] |
| 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; |