| Variant ID | 10311 |
|---|---|
| Entrez Gene ID | 54901 |
| Gene | CDKAL1 (GeneCards) |
| Location | hg19 6:21439449-21439449
hg38 6:21439218-21439218 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.21439449 G>A (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.8857 |
| CADD Raw score (version 1.3) | 1.986548 (Deleterious) |
| FATHMM raw prediction score | 0.20447 (Tolerated) |
| Deleterious probability by DeFine | 0.894 (Deleterious) |
| Entrez Gene ID | 54901 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDKAL1 (GeneCards) |
| Number of variants in CDKAL1 in this database | 11 (view all the variants) |
| Full name | CDK5 regulatory subunit associated protein 1 like 1 |
| Band | 6p22.3 |
| Other IDs | Vega: OTTHUMG00000014340 OMIM: 611259 HGNC: HGNC:21050 Ensembl: ENSG00000145996 |
| Other names | None |
| Summary | The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010] |
| Individual ID | 29217584.24 (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; |