| Variant ID | 13895 |
|---|---|
| Entrez Gene ID | 118461 |
| Gene | C10orf71 (GeneCards) |
| Location | hg19 10:50534768-50534768
hg38 10:49326723-49326723 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.50534768 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6438 |
| CADD Raw score (version 1.3) | 2.557195 (Deleterious) |
| FATHMM raw prediction score | 0.10708 (Tolerated) |
| SIFT score | 0.021 (Deleterious) |
| LRT score | 0.651 |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.895 (Tolerated) |
| PROVEAN score | -1.71 (Tolerated) |
| MetaSVM score | -0.92 (Tolerated) |
| MetaLR score | 0.014 (Tolerated) |
| MCAP score | 0.041 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.87 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.021 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.678 |
| Deleterious probability by iFish2 | 0.1265 (Neutral) |
| Deleterious probability by DeFine | 0.8334 (Deleterious) |
| Entrez Gene ID | 118461 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C10orf71 (GeneCards) |
| Number of variants in C10orf71 in this database | 2 (view all the variants) |
| Full name | chromosome 10 open reading frame 71 |
| Band | 10q11.23 |
| Other IDs | Vega: OTTHUMG00000018190 HGNC: HGNC:26973 Ensembl: ENSG00000177354 |
| Other names | CEFIP |
| Summary | None |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |