| Variant ID | 16962 |
|---|---|
| Entrez Gene ID | 1407 |
| Gene | CRY1 (GeneCards) |
| Location | hg19 12:107672182-107672182
hg38 12:107278405-107278405 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.107672182 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3492 |
| CADD Raw score (version 1.3) | -0.680756 (Deleterious) |
| FATHMM raw prediction score | 0.11964 (Tolerated) |
| Deleterious probability by DeFine | 0.198 (Neutral) |
| Entrez Gene ID | 1407 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CRY1 (GeneCards) |
| Number of variants in CRY1 in this database | 4 (view all the variants) |
| Full name | cryptochrome circadian regulator 1 |
| Band | 12q23.3 |
| Other IDs | Vega: OTTHUMG00000170005 OMIM: 601933 HGNC: HGNC:2384 Ensembl: ENSG00000008405 |
| Other names | DSPD, PHLL1 |
| Summary | This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Loss of the related gene in mouse results in a shortened circadian cycle in complete darkness. [provided by RefSeq, Jan 2014] |
| 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; |