| Variant ID | 11353 |
|---|---|
| Entrez Gene ID | 27044 |
| Gene | SND1 (GeneCards) |
| Location | hg19 7:127721003-127721003
hg38 7:128080951-128080951 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.127721003 G>A (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.7062 |
| CADD Raw score (version 1.3) | -0.616973 (Deleterious) |
| FATHMM raw prediction score | 0.05187 (Tolerated) |
| Deleterious probability by DeFine | 0.6265 (Deleterious) |
| Entrez Gene ID | 27044 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SND1 (GeneCards) |
| Number of variants in SND1 in this database | 1 (view all the variants) |
| Full name | staphylococcal nuclease and tudor domain containing 1 |
| Band | 7q32.1 |
| Other IDs | Vega: OTTHUMG00000157560 OMIM: 602181 HGNC: HGNC:30646 Ensembl: ENSG00000197157 |
| Other names | p100, TDRD11, Tdor-SN |
| Summary | This gene encodes a transcriptional co-activator that interacts with the acidic domain of Epstein-Barr virus nuclear antigen 2 (EBNA 2), a transcriptional activator that is required for B-lymphocyte transformation. Other transcription factors that interact with this protein are signal transducers and activators of transcription, STATs. This protein is also thought to be essential for normal cell growth. A similar protein in mammals and other organisms is a component of the RNA-induced silencing complex (RISC). [provided by RefSeq, Jul 2016] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |