| Variant ID | 29324 |
|---|---|
| Entrez Gene ID | 114788 |
| Gene | CSMD3 (GeneCards) |
| Location | hg19 8:114449093-114449093
hg38 8:113436864-113436864 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000008.10:g.114449093 G>C (Genome Assembly: GRCh37) |
| Exon or Intron | 5UTR |
|---|---|
| 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.7031 |
| CADD Raw score (version 1.3) | 0.928127 (Deleterious) |
| FATHMM raw prediction score | 0.98555 (Tolerated) |
| Deleterious probability by DeFine | 0.9496 (Deleterious) |
| Entrez Gene ID | 114788 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CSMD3 (GeneCards) |
| Number of variants in CSMD3 in this database | 54 (view all the variants) |
| Full name | CUB and Sushi multiple domains 3 |
| Band | 8q23.3 |
| Other IDs | Vega: OTTHUMG00000157027 OMIM: 608399 HGNC: HGNC:19291 Ensembl: ENSG00000164796 |
| Other names | None |
| Summary | None |
| Individual ID | 28503910.201 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| 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; |