| Variant ID | 12704 |
|---|---|
| Entrez Gene ID | 9699 |
| Gene | RIMS2 (GeneCards) |
| Location | hg19 8:104990168-104990168
hg38 8:103977940-103977940 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.104990168 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0418 |
| CADD Raw score (version 1.3) | 1.204642 (Deleterious) |
| FATHMM raw prediction score | 0.09061 (Tolerated) |
| Deleterious probability by DeFine | 0.1797 (Neutral) |
| Entrez Gene ID | 9699 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RIMS2 (GeneCards) |
| Number of variants in RIMS2 in this database | 10 (view all the variants) |
| Full name | regulating synaptic membrane exocytosis 2 |
| Band | 8q22.3 |
| Other IDs | Vega: OTTHUMG00000162097 OMIM: 606630 HGNC: HGNC:17283 Ensembl: ENSG00000176406 |
| Other names | OBOE, RIM2, RAB3IP3 |
| Summary | The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017] |
| Individual ID | 29217584.19 (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; |