| Variant ID | 29141 |
|---|---|
| Entrez Gene ID | 84964 |
| Gene | ALKBH6 (GeneCards) |
| Location | hg19 19:36505106-36505106
hg38 19:36014204-36014204 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000019.9:g.36505106 A>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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 2.1897 |
| CADD Raw score (version 1.3) | 0.637009 (Deleterious) |
| FATHMM raw prediction score | 0.99499 (Tolerated) |
| Deleterious probability by DeFine | 0.9364 (Deleterious) |
| Entrez Gene ID | 84964 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ALKBH6 (GeneCards) |
| Number of variants in ALKBH6 in this database | 1 (view all the variants) |
| Full name | alkB homolog 6 |
| Band | 19q13.12 |
| Other IDs | Vega: OTTHUMG00000048137 OMIM: 613304 HGNC: HGNC:28243 Ensembl: ENSG00000239382 |
| Other names | ABH6 |
| Summary | None |
| Individual ID | 28503910.18 (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; |