| Variant ID | 11680 |
|---|---|
| Entrez Gene ID | 6641 |
| Gene | SNTB1 (GeneCards) |
| Location | hg19 8:121709978-121709978
hg38 8:120697738-120697738 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.121709978 T>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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1977 |
| CADD Raw score (version 1.3) | 0.262796 (Deleterious) |
| FATHMM raw prediction score | 0.09462 (Tolerated) |
| Deleterious probability by DeFine | 0.221 (Neutral) |
| Entrez Gene ID | 6641 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SNTB1 (GeneCards) |
| Number of variants in SNTB1 in this database | 18 (view all the variants) |
| Full name | syntrophin beta 1 |
| Band | 8q24.12 |
| Other IDs | Vega: OTTHUMG00000165041 OMIM: 600026 HGNC: HGNC:11168 Ensembl: ENSG00000172164 |
| Other names | A1B, SNT2, BSYN2, 59-DAP, DAPA1B, SNT2B1, TIP-43 |
| Summary | Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (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; |