| Variant ID | 29575 |
|---|---|
| Entrez Gene ID | 6509 |
| Gene | SLC1A4 (GeneCards) |
| Location | hg19 2:65245299-65245299
hg38 2:65018165-65018165 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000002.11:g.65245299 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1408994 |
| Variant occurences in COSMIC | 2(large_intestine) |
| EIGEN score | 0.8304 |
| CADD Raw score (version 1.3) | 7.057366 (Deleterious) |
| FATHMM raw prediction score | 0.96964 (Tolerated) |
| SIFT score | 0.02 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.325 (Deleterious) |
| PROVEAN score | -2.41 (Tolerated) |
| MetaSVM score | -0.433 (Tolerated) |
| MetaLR score | 0.399 (Tolerated) |
| MCAP score | 0.032 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.17 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.143 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.879 |
| Deleterious probability by iFish2 | 0.9971 (Deleterious) |
| Deleterious probability by DeFine | 0.9505 (Deleterious) |
| Entrez Gene ID | 6509 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC1A4 (GeneCards) |
| Number of variants in SLC1A4 in this database | 1 (view all the variants) |
| Full name | solute carrier family 1 member 4 |
| Band | 2p14 |
| Other IDs | Vega: OTTHUMG00000129537 OMIM: 600229 HGNC: HGNC:10942 Ensembl: ENSG00000115902 |
| Other names | SATT, ASCT1, SPATCCM |
| Summary | The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017] |
| Individual ID | 28714951.251 (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; |