| Variant ID | 29695 |
|---|---|
| Entrez Gene ID | 6547 |
| Gene | SLC8A3 (GeneCards) |
| Location | hg19 14:70517735-70517735
hg38 14:70051018-70051018 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000014.8:g.70517735 G>A (Genome Assembly: hg19) |
| 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) | 0.0000323 |
|---|---|
| EIGEN score | 0.7799 |
| CADD Raw score (version 1.3) | 1.746866 (Deleterious) |
| FATHMM raw prediction score | 0.59706 (Tolerated) |
| Deleterious probability by DeFine | 0.8404 (Deleterious) |
| 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 | 28714951.371 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |