| Variant ID | 946 |
|---|---|
| Entrez Gene ID | 2314 |
| Gene | FLII (GeneCards) |
| Location | hg19 17:18152136-18152136
hg38 17:18248822-18248822 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000017.10:g.18152136 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 666 |
| Amino acid changes in protein | L > L |
| 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 | 2.8718 |
| CADD Raw score (version 1.3) | 1.04582 (Deleterious) |
| FATHMM raw prediction score | 0.92874 (Tolerated) |
| Deleterious probability by DeFine | 0.956 (Deleterious) |
| Entrez Gene ID | 2314 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FLII (GeneCards) |
| Number of variants in FLII in this database | 2 (view all the variants) |
| Full name | FLII, actin remodeling protein |
| Band | 17p11.2 |
| Other IDs | Vega: OTTHUMG00000059389 OMIM: 600362 HGNC: HGNC:3750 Ensembl: ENSG00000177731 |
| Other names | FLI, FLIL, Fli1 |
| Summary | This gene encodes a protein with a gelsolin-like actin binding domain and an N-terminal leucine-rich repeat-protein protein interaction domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] |
| 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; |