| Variant ID | 877 |
|---|---|
| Entrez Gene ID | 4905 |
| Gene | NSF (GeneCards) |
| Location | hg19 17:44791249-44791249
hg38 17:46713883-46713883 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000017.10:g.44791249 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 553 |
| Amino acid changes in protein | A > V |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9142 |
| CADD Raw score (version 1.3) | 6.798732 (Deleterious) |
| FATHMM raw prediction score | 0.97525 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.57 (Deleterious) |
| PROVEAN score | -3.77 (Deleterious) |
| MetaSVM score | 1.065 (Deleterious) |
| MetaLR score | 0.932 (Deleterious) |
| MCAP score | 0.446 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.26 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.503 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.229 |
| Deleterious probability by iFish2 | 0.9955 (Deleterious) |
| Deleterious probability by DeFine | 0.9663 (Deleterious) |
| Entrez Gene ID | 4905 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NSF (GeneCards) |
| Number of variants in NSF in this database | 2 (view all the variants) |
| Full name | N-ethylmaleimide sensitive factor, vesicle fusing ATPase |
| Band | 17q21.31 |
| Other IDs | Vega: OTTHUMG00000134315 OMIM: 601633 HGNC: HGNC:8016 Ensembl: ENSG00000073969 |
| Other names | SKD2, SEC18 |
| 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; |