| Variant ID | 980 |
|---|---|
| Entrez Gene ID | 60491 |
| Gene | NIF3L1 (GeneCards) |
| Location | hg19 2:201756885-201756885
hg38 2:200892162-200892162 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.201756885 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 46 |
| Amino acid changes in protein | L > L |
| 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 | 1.5723 |
| CADD Raw score (version 1.3) | 0.909489 (Deleterious) |
| FATHMM raw prediction score | 0.97866 (Tolerated) |
| Deleterious probability by DeFine | 0.9348 (Deleterious) |
| Entrez Gene ID | 60491 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NIF3L1 (GeneCards) |
| Number of variants in NIF3L1 in this database | 1 (view all the variants) |
| Full name | NGG1 interacting factor 3 like 1 |
| Band | 2q33.1 |
| Other IDs | Vega: OTTHUMG00000154588 OMIM: 605778 HGNC: HGNC:13390 Ensembl: ENSG00000196290 |
| Other names | CALS-7, MDS015, ALS2CR1 |
| 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; |