| Variant ID | 29920 |
|---|---|
| Entrez Gene ID | 23025 |
| Gene | UNC13A (GeneCards) |
| Location | hg19 19:17720779-17720779
hg38 19:17609970-17609970 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000019.9:g.17720779 C>T (Genome Assembly: hg19) |
| 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8173 |
| CADD Raw score (version 1.3) | 13.806538 (Deleterious) |
| FATHMM raw prediction score | 0.98754 (Tolerated) |
| LRT score | 0 |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.13 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.778 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.953 |
| Deleterious probability by DeFine | 0.939 (Deleterious) |
| Entrez Gene ID | 23025 (NCBI Gene) |
|---|---|
| Official Gene Symbol | UNC13A (GeneCards) |
| Number of variants in UNC13A in this database | 2 (view all the variants) |
| Full name | unc-13 homolog A |
| Band | 19p13.11 |
| Other IDs | Vega: OTTHUMG00000163877 OMIM: 609894 HGNC: HGNC:23150 Ensembl: ENSG00000130477 |
| Other names | Mnc13-1 |
| Summary | This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012] |
| Individual ID | 28867142.22 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |