| Variant ID | 15824 |
|---|---|
| Entrez Gene ID | 445372 |
| Gene | TRIM6-TRIM34 (GeneCards) |
| Location | hg19 11:5673117-5673117
hg38 11:5651887-5651887 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.5673117 A>G (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1825 |
| CADD Raw score (version 1.3) | 0.425395 (Deleterious) |
| FATHMM raw prediction score | 0.1809 (Tolerated) |
| Deleterious probability by DeFine | 0.065 (Neutral) |
| Entrez Gene ID | 445372 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TRIM6-TRIM34 (GeneCards) |
| Number of variants in TRIM6-TRIM34 in this database | 1 (view all the variants) |
| Full name | TRIM6-TRIM34 readthrough |
| Band | 11p15.4 |
| Other IDs | Vega: OTTHUMG00000066899 HGNC: HGNC:33440 Ensembl: ENSG00000258588 |
| Other names | IFP1, RNF21, TRIM34 |
| Summary | The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This gene represents a readthrough transcript from genes TRIM6 and TRIM34, and it was described as a splice variant of TRIM34. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. [provided by RefSeq, Nov 2009] |
| Individual ID | 29217584.17 (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; |