| Variant ID | 5724 |
|---|---|
| Entrez Gene ID | 131566 |
| Gene | DCBLD2 (GeneCards) |
| Location | hg19 3:98958170-98958170
hg38 3:99239326-99239326 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.98958170 A>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 | -0.4309 |
| CADD Raw score (version 1.3) | -0.450933 (Deleterious) |
| FATHMM raw prediction score | 0.05471 (Tolerated) |
| Deleterious probability by DeFine | 0.163 (Neutral) |
| Entrez Gene ID | 131566 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DCBLD2 (GeneCards) |
| Number of variants in DCBLD2 in this database | 6 (view all the variants) |
| Full name | discoidin, CUB and LCCL domain containing 2 |
| Band | 3q12.1 |
| Other IDs | Vega: OTTHUMG00000151985 OMIM: 608698 HGNC: HGNC:24627 Ensembl: ENSG00000057019 |
| Other names | ESDN, CLCP1 |
| Summary | None |
| Individual ID | 29217584.18 (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; |