| Variant ID | 29287 |
|---|---|
| Entrez Gene ID | 9900 |
| Gene | SV2A (GeneCards) |
| Location | hg19 1:149881028-149881028
hg38 1:149909476-149909476 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000001.10:g.149881028 C>G (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0446 |
| CADD Raw score (version 1.3) | 3.430007 (Deleterious) |
| FATHMM raw prediction score | 0.82784 (Tolerated) |
| SIFT score | 0.703 (Tolerated) |
| LRT score | 0.04 (Tolerated) |
| MutationTaster score | 0.974 (Deleterious) |
| MutatioinAssessor score | 1.2 (Tolerated) |
| PROVEAN score | -0.88 (Tolerated) |
| MetaSVM score | -1.073 (Tolerated) |
| MetaLR score | 0.05 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.38 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.077 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.168 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.226 |
| Deleterious probability by iFish2 | 0.6833 (Deleterious) |
| Deleterious probability by DeFine | 0.9428 (Deleterious) |
| Entrez Gene ID | 9900 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SV2A (GeneCards) |
| Number of variants in SV2A in this database | 2 (view all the variants) |
| Full name | synaptic vesicle glycoprotein 2A |
| Band | 1q21.2 |
| Other IDs | Vega: OTTHUMG00000012209 OMIM: 185860 HGNC: HGNC:20566 Ensembl: ENSG00000159164 |
| Other names | SV2 |
| Summary | The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016] |
| Individual ID | 28503910.164 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |