| Variant ID | 16891 |
|---|---|
| Entrez Gene ID | 93589 |
| Gene | CACNA2D4 (GeneCards) |
| Location | hg19 12:1943172-1943172
hg38 12:1834006-1834006 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.1943172 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 | 0.1029 |
| CADD Raw score (version 1.3) | -0.019563 (Deleterious) |
| FATHMM raw prediction score | 0.22858 (Tolerated) |
| Deleterious probability by DeFine | 0.6546 (Deleterious) |
| Entrez Gene ID | 93589 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CACNA2D4 (GeneCards) |
| Number of variants in CACNA2D4 in this database | 1 (view all the variants) |
| Full name | calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
| Band | 12p13.33 |
| Other IDs | Vega: OTTHUMG00000168111 OMIM: 608171 HGNC: HGNC:20202 Ensembl: ENSG00000151062 |
| Other names | RCD4 |
| Summary | This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (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; |