| Variant ID | 29256 |
|---|---|
| Entrez Gene ID | 440993 |
| Gene | LINC00969 (GeneCards) |
| Location | hg19 3:195426077-195426077
hg38 3:195699206-195699206 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000003.11:g.195426077 T>A (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0.018 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs113141255 |
| EIGEN score | -0.2429 |
| CADD Raw score (version 1.3) | 0.412436 (Deleterious) |
| FATHMM raw prediction score | 0.15573 (Tolerated) |
| Deleterious probability by DeFine | 0.1204 (Neutral) |
| Entrez Gene ID | 440993 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LINC00969 (GeneCards) |
| Number of variants in MIR570HG in this database | 1 (view all the variants) |
| Full name | MIR570 host gene |
| Band | 3q29 |
| Other IDs | HGNC: HGNC:53743 |
| Other names | LINC00969 |
| Summary | None |
| Individual ID | 28503910.133 (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; |