| Variant ID | 2798 |
|---|---|
| Entrez Gene ID | 23418 |
| Gene | CRB1 (GeneCards) |
| Location | hg19 1:197331809-197331809
hg38 1:197362679-197362679 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.197331809 T>C (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.576 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs4915525 |
| EIGEN score | -0.3568 |
| CADD Raw score (version 1.3) | -0.243693 (Deleterious) |
| FATHMM raw prediction score | 0.06027 (Tolerated) |
| Deleterious probability by DeFine | 0.1017 (Neutral) |
| Entrez Gene ID | 23418 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CRB1 (GeneCards) |
| Number of variants in CRB1 in this database | 4 (view all the variants) |
| Full name | crumbs 1, cell polarity complex component |
| Band | 1q31.3 |
| Other IDs | Vega: OTTHUMG00000035663 OMIM: 604210 HGNC: HGNC:2343 Ensembl: ENSG00000134376 |
| Other names | LCA8, RP12 |
| Summary | This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012] |
| Individual ID | 29217584.22 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |