| Variant ID | 977 |
|---|---|
| Entrez Gene ID | 150737 |
| Gene | TTC30B (GeneCards) |
| Location | hg19 2:178415550-178415550
hg38 2:177550822-177550822 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.178415550 A>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 648 |
| Amino acid changes in protein | Y > N |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5713 |
| CADD Raw score (version 1.3) | -0.192195 (Deleterious) |
| FATHMM raw prediction score | 0.94877 (Tolerated) |
| SIFT score | 0.07 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.175 (Deleterious) |
| PROVEAN score | -6.73 (Deleterious) |
| MetaSVM score | -1.097 (Tolerated) |
| MetaLR score | 0.066 (Tolerated) |
| MCAP score | 0.009 (Tolerated) |
| FitCons score | 0.66 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.58 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.256 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.854 |
| Deleterious probability by iFish2 | 0.4953 (Neutral) |
| Deleterious probability by DeFine | 0.9381 (Deleterious) |
| Entrez Gene ID | 150737 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TTC30B (GeneCards) |
| Number of variants in TTC30B in this database | 1 (view all the variants) |
| Full name | tetratricopeptide repeat domain 30B |
| Band | 2q31.2 |
| Other IDs | Vega: OTTHUMG00000154166 HGNC: HGNC:26425 Ensembl: ENSG00000196659 |
| Other names | IFT70, fleer, IFT70B |
| 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; |