| Variant ID | 1058 |
|---|---|
| Entrez Gene ID | 22981 |
| Gene | NINL (GeneCards) |
| Location | hg19 20:25507147-25507147
hg38 20:25526511-25526511 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000020.10:g.25507147 A>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 26 |
| Amino acid changes in protein | F > C |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2187 |
| CADD Raw score (version 1.3) | 4.927571 (Deleterious) |
| FATHMM raw prediction score | 0.62538 (Tolerated) |
| SIFT score | 0.063 (Tolerated) |
| LRT score | 0.001 (Deleterious) |
| MutationTaster score | 0.922 (Deleterious) |
| MutatioinAssessor score | 2.625 (Deleterious) |
| PROVEAN score | -3.6 (Deleterious) |
| MetaSVM score | -0.962 (Tolerated) |
| MetaLR score | 0.116 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.45 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.544 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.977 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.595 |
| Deleterious probability by iFish2 | 0.5644 (Deleterious) |
| Deleterious probability by DeFine | 0.9382 (Deleterious) |
| Entrez Gene ID | 22981 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NINL (GeneCards) |
| Number of variants in NINL in this database | 2 (view all the variants) |
| Full name | ninein like |
| Band | 20p11.21 |
| Other IDs | Vega: OTTHUMG00000032127 OMIM: 609580 HGNC: HGNC:29163 Ensembl: ENSG00000101004 |
| Other names | NLP |
| 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; |