| Variant ID | 5900 |
|---|---|
| Entrez Gene ID | 26998 |
| Gene | FETUB (GeneCards) |
| Location | hg19 3:186378021-186378021
hg38 3:186660232-186660232 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.186378021 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| 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 | -0.3109 |
| CADD Raw score (version 1.3) | 0.531638 (Deleterious) |
| FATHMM raw prediction score | 0.04801 (Tolerated) |
| Deleterious probability by DeFine | 0.2038 (Neutral) |
| 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 | 29217584.22 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |