| Variant ID | 17826 |
|---|---|
| Entrez Gene ID | 283514 |
| Gene | SIAH3 (GeneCards) |
| Location | hg19 13:46443815-46443815
hg38 13:45869680-45869680 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.46443815 G>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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1136 |
| CADD Raw score (version 1.3) | -0.044337 (Deleterious) |
| FATHMM raw prediction score | 0.28011 (Tolerated) |
| Deleterious probability by DeFine | 0.33 (Neutral) |
| Entrez Gene ID | 283514 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SIAH3 (GeneCards) |
| Number of variants in SIAH3 in this database | 2 (view all the variants) |
| Full name | siah E3 ubiquitin protein ligase family member 3 |
| Band | 13q14.13 |
| Other IDs | Vega: OTTHUMG00000016862 OMIM: 615609 HGNC: HGNC:30553 Ensembl: ENSG00000215475 |
| Other names | None |
| Summary | None |
| Individual ID | 29217584.17 (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; |