| Variant ID | 22305 |
|---|---|
| Entrez Gene ID | 1038 |
| Gene | CDR1 (GeneCards) |
| Location | hg19 X:139864724-139864724
hg38 X:140782559-140782559 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.139864724 C>A (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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.025301 (Deleterious) |
| FATHMM raw prediction score | 0.14691 (Tolerated) |
| Deleterious probability by DeFine | 0.3637 (Neutral) |
| Entrez Gene ID | 1038 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDR1 (GeneCards) |
| Number of variants in CDR1 in this database | 2 (view all the variants) |
| Full name | cerebellar degeneration related protein 1 |
| Band | Xq27.1 |
| Other IDs | Vega: OTTHUMG00000137398 OMIM: 302650 HGNC: HGNC:1798 Ensembl: ENSG00000184258 |
| Other names | CDR, CDR34, CDR62A |
| Summary | Autoantibodies directed against the protein encoded by this intronless gene have been found in some patients with paraneoplastic cerebellar degeneration. The encoded protein contains several hexapeptide repeats. [provided by RefSeq, Jan 2010] |
| Individual ID | 29217584.19 (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; |