| Variant ID | 29203 |
|---|---|
| Entrez Gene ID | 90853 |
| Gene | SPOCD1 (GeneCards) |
| Location | hg19 1:32280023-32280023
hg38 1:31814422-31814422 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000001.10:g.32280023 G>A (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3593 |
| CADD Raw score (version 1.3) | 0.462307 (Deleterious) |
| FATHMM raw prediction score | 0.07157 (Tolerated) |
| Deleterious probability by DeFine | 0.7831 (Deleterious) |
| Entrez Gene ID | 90853 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPOCD1 (GeneCards) |
| Number of variants in SPOCD1 in this database | 4 (view all the variants) |
| Full name | SPOC domain containing 1 |
| Band | 1p35.2 |
| Other IDs | Vega: OTTHUMG00000003879 HGNC: HGNC:26338 Ensembl: ENSG00000134668 |
| Other names | PPP1R146 |
| Summary | This gene encodes a protein that belongs to the TFIIS family of transcription factors. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] |
| Individual ID | 28503910.80 (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; |