| Variant ID | 18150 |
|---|---|
| Entrez Gene ID | 6547 |
| Gene | SLC8A3 (GeneCards) |
| Location | hg19 14:70665482-70665482
hg38 14:70198765-70198765 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.70665482 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3541 |
| CADD Raw score (version 1.3) | -0.388943 (Deleterious) |
| FATHMM raw prediction score | 0.07192 (Tolerated) |
| Deleterious probability by DeFine | 0.1183 (Neutral) |
| Entrez Gene ID | 6547 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC8A3 (GeneCards) |
| Number of variants in SLC8A3 in this database | 4 (view all the variants) |
| Full name | solute carrier family 8 member A3 |
| Band | 14q24.2 |
| Other IDs | Vega: OTTHUMG00000152342 OMIM: 607991 HGNC: HGNC:11070 Ensembl: ENSG00000100678 |
| Other names | NCX3 |
| Summary | This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013] |
| Individual ID | 29217584.06 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |