| Variant ID | 29145 |
|---|---|
| Entrez Gene ID | 286238 |
| Gene | LOC286238 (GeneCards) |
| Location | hg19 9:91262282-91262282
hg38 9:88647367-88647367 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000009.11:g.91262282 A>G (Genome Assembly: GRCh37) |
| Exon or Intron | 3UTR |
|---|---|
| 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5348 |
| CADD Raw score (version 1.3) | -0.416996 (Deleterious) |
| FATHMM raw prediction score | 0.05533 (Tolerated) |
| Deleterious probability by DeFine | 0.2217 (Neutral) |
| Entrez Gene ID | 286238 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LOC286238 (GeneCards) |
| Number of variants in LOC286238 in this database | 3 (view all the variants) |
| Full name | uncharacterized LOC286238 |
| Band | 9q22.1 |
| Other IDs | Ensembl: ENSG00000228189 |
| Other names | None |
| Summary | None |
| Individual ID | 28503910.22 (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; |