| Variant ID | 12764 |
|---|---|
| Entrez Gene ID | 157695 |
| Gene | TDRP (GeneCards) |
| Location | hg19 8:528959-528959
hg38 8:578959-578959 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.528959 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003232 |
|---|---|
| EIGEN score | -0.5218 |
| CADD Raw score (version 1.3) | -0.400589 (Deleterious) |
| FATHMM raw prediction score | 0.06501 (Tolerated) |
| Deleterious probability by DeFine | 0.2951 (Neutral) |
| Entrez Gene ID | 157695 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TDRP (GeneCards) |
| Number of variants in TDRP in this database | 4 (view all the variants) |
| Full name | testis development related protein |
| Band | 8p23.3 |
| Other IDs | Vega: OTTHUMG00000163593 HGNC: HGNC:26951 Ensembl: ENSG00000180190 |
| Other names | Inm01, TDRP1, TDRP2, C8orf42 |
| Summary | None |
| Individual ID | 29217584.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |