| Variant ID | 1087 |
|---|---|
| Entrez Gene ID | 26998 |
| Gene | FETUB (GeneCards) |
| Location | hg19 3:186358914-186358914
hg38 3:186641125-186641125 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.186358914 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 107 |
| Amino acid changes in protein | R > R |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8 |
| CADD Raw score (version 1.3) | 0.067456 (Deleterious) |
| FATHMM raw prediction score | 0.28885 (Tolerated) |
| Deleterious probability by DeFine | 0.9041 (Deleterious) |
| Entrez Gene ID | 26998 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FETUB (GeneCards) |
| Number of variants in FETUB in this database | 3 (view all the variants) |
| Full name | fetuin B |
| Band | 3q27.3 |
| Other IDs | Vega: OTTHUMG00000156586 OMIM: 605954 HGNC: HGNC:3658 Ensembl: ENSG00000090512 |
| Other names | 16G2, Gg, IRL685 |
| Summary | The protein encoded by this gene is a member of the fetuin family, part of the cystatin superfamily of cysteine protease inhibitors. Fetuins have been implicated in several diverse functions, including osteogenesis and bone resorption, regulation of the insulin and hepatocyte growth factor receptors, and response to systemic inflammation. This protein may be secreted by cells. [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; |