| Variant ID | 29286 |
|---|---|
| Entrez Gene ID | 339745 |
| Gene | SPOPL (GeneCards) |
| Location | hg19 2:139316934-139316934
hg38 2:138559364-138559364 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000002.11:g.139316934 G>T (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0.1738 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs11903991 |
| EIGEN score | 0.2849 |
| CADD Raw score (version 1.3) | 0.480335 (Deleterious) |
| FATHMM raw prediction score | 0.14045 (Tolerated) |
| Deleterious probability by DeFine | 0.5539 (Deleterious) |
| Entrez Gene ID | 339745 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPOPL (GeneCards) |
| Number of variants in SPOPL in this database | 1 (view all the variants) |
| Full name | speckle type BTB/POZ protein like |
| Band | 2q22.1 |
| Other IDs | Vega: OTTHUMG00000153635 HGNC: HGNC:27934 Ensembl: ENSG00000144228 |
| Other names | BTBD33 |
| Summary | None |
| Individual ID | 28503910.163 (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; |