| Variant ID | 9439 |
|---|---|
| Entrez Gene ID | 23345 |
| Gene | SYNE1 (GeneCards) |
| Location | hg19 6:152593858-152593858
hg38 6:152272723-152272723 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.152593858 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0828 |
| CADD Raw score (version 1.3) | 0.26553 (Deleterious) |
| FATHMM raw prediction score | 0.1469 (Tolerated) |
| Deleterious probability by DeFine | 0.4514 (Neutral) |
| Entrez Gene ID | 23345 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SYNE1 (GeneCards) |
| Number of variants in SYNE1 in this database | 8 (view all the variants) |
| Full name | spectrin repeat containing nuclear envelope protein 1 |
| Band | 6q25.2 |
| Other IDs | Vega: OTTHUMG00000015841 OMIM: 608441 HGNC: HGNC:17089 Ensembl: ENSG00000131018 |
| Other names | 8B, CPG2, ARCA1, EDMD4, KASH1, MYNE1, Nesp1, SCAR8, C6orf98, dJ45H2.2 |
| Summary | This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.09 (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; |