| Variant ID | 1593 |
|---|---|
| Entrez Gene ID | 90853 |
| Gene | SPOCD1 (GeneCards) |
| Location | hg19 1:32339409-32339409
hg38 1:31873808-31873808 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.32339409 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| 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 | -0.1026 |
| CADD Raw score (version 1.3) | 0.548714 (Deleterious) |
| FATHMM raw prediction score | 0.14986 (Tolerated) |
| Deleterious probability by DeFine | 0.0828 (Neutral) |
| 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 | 29217584.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |