| Variant ID | 911 |
|---|---|
| Entrez Gene ID | 64858 |
| Gene | DCLRE1B (GeneCards) |
| Location | hg19 1:114454661-114454661
hg38 1:113912039-113912039 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.114454661 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 483 |
| Amino acid changes in protein | L > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4072 |
| CADD Raw score (version 1.3) | 0.858731 (Deleterious) |
| FATHMM raw prediction score | 0.20175 (Tolerated) |
| Deleterious probability by DeFine | 0.7655 (Deleterious) |
| Entrez Gene ID | 64858 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DCLRE1B (GeneCards) |
| Number of variants in DCLRE1B in this database | 1 (view all the variants) |
| Full name | DNA cross-link repair 1B |
| Band | 1p13.2 |
| Other IDs | Vega: OTTHUMG00000011937 OMIM: 609683 HGNC: HGNC:17641 Ensembl: ENSG00000118655 |
| Other names | SNM1B, SNMIB, APOLLO |
| Summary | DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM, Mar 2008] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |