| Variant ID | 17782 |
|---|---|
| Entrez Gene ID | 4093 |
| Gene | SMAD9 (GeneCards) |
| Location | hg19 13:37504533-37504533
hg38 13:36930396-36930396 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.37504533 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3326 |
| CADD Raw score (version 1.3) | 0.02227 (Deleterious) |
| FATHMM raw prediction score | 0.06535 (Tolerated) |
| Deleterious probability by DeFine | 0.1309 (Neutral) |
| Entrez Gene ID | 4093 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SMAD9 (GeneCards) |
| Number of variants in SMAD9 in this database | 2 (view all the variants) |
| Full name | SMAD family member 9 |
| Band | 13q13.3 |
| Other IDs | Vega: OTTHUMG00000016740 OMIM: 603295 HGNC: HGNC:6774 Ensembl: ENSG00000120693 |
| Other names | PPH2, MADH6, MADH9, SMAD8, SMAD8A, SMAD8B, SMAD8/9 |
| Summary | The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] |
| Individual ID | 29217584.15 (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; |