| Variant ID | 827 |
|---|---|
| Entrez Gene ID | 257169 |
| Gene | C9orf43 (GeneCards) |
| Location | hg19 9:116176147-116176147
hg38 9:113413867-113413867 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000009.11:g.116176147 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 87 |
| Amino acid changes in protein | S > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5264 |
| CADD Raw score (version 1.3) | 2.28393 (Deleterious) |
| FATHMM raw prediction score | 0.0212 (Tolerated) |
| SIFT score | 0.004 (Deleterious) |
| LRT score | 0.176 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.7 (Tolerated) |
| PROVEAN score | -3.82 (Deleterious) |
| MetaSVM score | -1.028 (Tolerated) |
| MetaLR score | 0.092 (Tolerated) |
| MCAP score | 0.017 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.46 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.052 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.201 |
| Deleterious probability by iFish2 | 0.0106 (Neutral) |
| Deleterious probability by DeFine | 0.6245 (Deleterious) |
| Entrez Gene ID | 257169 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C9orf43 (GeneCards) |
| Number of variants in C9orf43 in this database | 1 (view all the variants) |
| Full name | chromosome 9 open reading frame 43 |
| Band | 9q32 |
| Other IDs | Vega: OTTHUMG00000020526 HGNC: HGNC:23570 Ensembl: ENSG00000157653 |
| Other names | None |
| 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; |