| Variant ID | 29651 |
|---|---|
| Entrez Gene ID | 221074 |
| Gene | SLC39A12 (GeneCards) |
| Location | hg19 10:18250538-18250538
hg38 10:17961609-17961609 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000010.10:g.18250538 T>C (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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1702 |
| CADD Raw score (version 1.3) | 1.607256 (Deleterious) |
| FATHMM raw prediction score | 0.76093 (Tolerated) |
| SIFT score | 0.316 (Tolerated) |
| LRT score | 0.004 (Tolerated) |
| MutationTaster score | 0.838 (Deleterious) |
| MutatioinAssessor score | 2.005 (Deleterious) |
| PROVEAN score | -1.64 (Tolerated) |
| MetaSVM score | -1.106 (Tolerated) |
| MetaLR score | 0.046 (Tolerated) |
| MCAP score | 0.008 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.3 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.161 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.986 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.453 |
| Deleterious probability by iFish2 | 0.5452 (Neutral) |
| Deleterious probability by DeFine | 0.8766 (Deleterious) |
| Entrez Gene ID | 221074 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC39A12 (GeneCards) |
| Number of variants in SLC39A12 in this database | 2 (view all the variants) |
| Full name | solute carrier family 39 member 12 |
| Band | 10p12.33 |
| Other IDs | Vega: OTTHUMG00000017759 OMIM: 608734 HGNC: HGNC:20860 Ensembl: ENSG00000148482 |
| Other names | ZIP-12, LZT-Hs8, bA570F3.1 |
| Summary | Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008] |
| Individual ID | 28714951.327 (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; |