| Variant ID | 10066 |
|---|---|
| Entrez Gene ID | 2697 |
| Gene | GJA1 (GeneCards) |
| Location | hg19 6:121887001-121887001
hg38 6:121565855-121565855 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.121887001 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0916 |
| CADD Raw score (version 1.3) | 0.898418 (Deleterious) |
| FATHMM raw prediction score | 0.26394 (Tolerated) |
| Deleterious probability by DeFine | 0.0999 (Neutral) |
| Entrez Gene ID | 2697 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GJA1 (GeneCards) |
| Number of variants in GJA1 in this database | 14 (view all the variants) |
| Full name | gap junction protein alpha 1 |
| Band | 6q22.31 |
| Other IDs | Vega: OTTHUMG00000015479 OMIM: 121014 HGNC: HGNC:4274 Ensembl: ENSG00000152661 |
| Other names | HSS, CMDR, CX43, EKVP, GJAL, ODDD, AVSD3, EKVP3, HLHS1, PPKCA |
| Summary | This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014] |
| 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; |