| Variant ID | 19219 |
|---|---|
| Entrez Gene ID | 1381 |
| Gene | CRABP1 (GeneCards) |
| Location | hg19 15:78717293-78717293
hg38 15:78424951-78424951 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.78717293 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1113 |
| CADD Raw score (version 1.3) | -0.01556 (Deleterious) |
| FATHMM raw prediction score | 0.12808 (Tolerated) |
| Deleterious probability by DeFine | 0.1797 (Neutral) |
| Entrez Gene ID | 1381 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CRABP1 (GeneCards) |
| Number of variants in CRABP1 in this database | 1 (view all the variants) |
| Full name | cellular retinoic acid binding protein 1 |
| Band | 15q25.1 |
| Other IDs | Vega: OTTHUMG00000143862 OMIM: 180230 HGNC: HGNC:2338 Ensembl: ENSG00000166426 |
| Other names | RBP5, CRABP, CRABPI, CRABP-I |
| Summary | This gene encodes a specific binding protein for a vitamin A family member and is thought to play an important role in retinoic acid-mediated differentiation and proliferation processes. It is structurally similar to the cellular retinol-binding proteins, but binds only retinoic acid at specific sites within the nucleus, which may contribute to vitamin A-directed differentiation in epithelial tissue. [provided by RefSeq, Jul 2008] |
| 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; |