| Variant ID | 2624 |
|---|---|
| Entrez Gene ID | 6262 |
| Gene | RYR2 (GeneCards) |
| Location | hg19 1:237763340-237763340
hg38 1:237600040-237600040 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.237763340 C>G (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0593 |
| CADD Raw score (version 1.3) | 0.9357 (Deleterious) |
| FATHMM raw prediction score | 0.40591 (Tolerated) |
| Deleterious probability by DeFine | 0.0621 (Neutral) |
| Entrez Gene ID | 6262 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RYR2 (GeneCards) |
| Number of variants in RYR2 in this database | 13 (view all the variants) |
| Full name | ryanodine receptor 2 |
| Band | 1q43 |
| Other IDs | Vega: OTTHUMG00000039543 OMIM: 180902 HGNC: HGNC:10484 Ensembl: ENSG00000198626 |
| Other names | RyR, ARVC2, ARVD2, RYR-2, VTSIP |
| Summary | This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (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; |