| Variant ID | 29599 |
|---|---|
| Entrez Gene ID | 10165 |
| Gene | SLC25A13 (GeneCards) |
| Location | hg19 7:95750561-95750561
hg38 7:96121249-96121249 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000007.13:g.95750561 T>G (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2472 |
| CADD Raw score (version 1.3) | 2.757441 (Deleterious) |
| FATHMM raw prediction score | 0.97152 (Tolerated) |
| SIFT score | 0.286 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.265 (Tolerated) |
| PROVEAN score | -1.91 (Tolerated) |
| MetaSVM score | -0.771 (Tolerated) |
| MetaLR score | 0.262 (Tolerated) |
| MCAP score | 0.031 (Deleterious) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.45 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.148 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.002 |
| Deleterious probability by iFish2 | 0.1901 (Neutral) |
| Deleterious probability by DeFine | 0.9242 (Deleterious) |
| Entrez Gene ID | 10165 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC25A13 (GeneCards) |
| Number of variants in SLC25A13 in this database | 2 (view all the variants) |
| Full name | solute carrier family 25 member 13 |
| Band | 7q21.3 |
| Other IDs | Vega: OTTHUMG00000023074 OMIM: 603859 HGNC: HGNC:10983 Ensembl: ENSG00000004864 |
| Other names | CTLN2, CITRIN, ARALAR2 |
| Summary | This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] |
| Individual ID | 28714951.275 (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; |