| Variant ID | 1147 |
|---|---|
| Entrez Gene ID | 23112 |
| Gene | TNRC6B (GeneCards) |
| Location | hg19 22:40662612-40662612
hg38 22:40266608-40266608 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000022.10:g.40662612 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 793 |
| Amino acid changes in protein | S > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2673 |
| CADD Raw score (version 1.3) | 2.887386 (Deleterious) |
| FATHMM raw prediction score | 0.98591 (Tolerated) |
| SIFT score | 0.015 (Deleterious) |
| LRT score | 0.001 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.195 (Deleterious) |
| PROVEAN score | -2.62 (Deleterious) |
| MetaSVM score | -1.156 (Tolerated) |
| MetaLR score | 0.068 (Tolerated) |
| MCAP score | 0.013 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.34 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.378 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.037 |
| Deleterious probability by iFish2 | 0.9721 (Deleterious) |
| Deleterious probability by DeFine | 0.9513 (Deleterious) |
| Entrez Gene ID | 23112 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TNRC6B (GeneCards) |
| Number of variants in TNRC6B in this database | 3 (view all the variants) |
| Full name | trinucleotide repeat containing 6B |
| Band | 22q13.1 |
| Other IDs | Vega: OTTHUMG00000151114 OMIM: 610740 HGNC: HGNC:29190 Ensembl: ENSG00000100354 |
| 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; |