| Variant ID | 13699 |
|---|---|
| Entrez Gene ID | 25769 |
| Gene | SLC24A2 (GeneCards) |
| Location | hg19 9:19596500-19596500
hg38 9:19596502-19596502 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.19596500 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | -0.195 |
| CADD Raw score (version 1.3) | -0.090177 (Deleterious) |
| FATHMM raw prediction score | 0.0911 (Tolerated) |
| Deleterious probability by DeFine | 0.6357 (Deleterious) |
| Entrez Gene ID | 25769 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC24A2 (GeneCards) |
| Number of variants in SLC24A2 in this database | 11 (view all the variants) |
| Full name | solute carrier family 24 member 2 |
| Band | 9p22.1-p21.3 |
| Other IDs | Vega: OTTHUMG00000019646 OMIM: 609838 HGNC: HGNC:10976 Ensembl: ENSG00000155886 |
| Other names | NCKX2 |
| Summary | This gene encodes a member of the calcium/cation antiporter superfamily of transport proteins. The encoded protein belongs to the SLC24 branch of exchangers, which can mediate the extrusion of one Ca2+ ion and one K+ ion in exchange for four Na+ ions. This family member is a retinal cone/brain exchanger that can mediate a light-induced decrease in free Ca2+ concentration. This protein may also play a neuroprotective role during ischemic brain injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] |
| 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; |