| Variant ID | 10046 |
|---|---|
| Entrez Gene ID | 27283 |
| Gene | TINAG (GeneCards) |
| Location | hg19 6:54253046-54253046
hg38 6:54388248-54388248 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.54253046 T>C (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2418 |
| CADD Raw score (version 1.3) | -0.199064 (Deleterious) |
| FATHMM raw prediction score | 0.08755 (Tolerated) |
| Deleterious probability by DeFine | 0.2325 (Neutral) |
| Entrez Gene ID | 27283 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TINAG (GeneCards) |
| Number of variants in TINAG in this database | 8 (view all the variants) |
| Full name | tubulointerstitial nephritis antigen |
| Band | 6p12.1 |
| Other IDs | Vega: OTTHUMG00000014893 OMIM: 606749 HGNC: HGNC:14599 Ensembl: ENSG00000137251 |
| Other names | TIN-AG |
| Summary | This gene encodes a glycoprotein that is restricted within the kidney to the basement membranes underlying the epithelium of Bowman's capsule and proximal and distal tubules. Autoantibodies against this protein are found in sera of patients with tubulointerstital nephritis, membranous nephropathy and anti-glomerular basement membrane nephritis. Ontogeny studies suggest that the expression of this antigen is developmentally regulated in a precise spatial and temporal pattern throughout nephrogenesis. [provided by RefSeq, Nov 2011] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |