| Variant ID | 8981 |
|---|---|
| Entrez Gene ID | 22999 |
| Gene | RIMS1 (GeneCards) |
| Location | hg19 6:72689556-72689556
hg38 6:71979853-71979853 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.72689556 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 | -0.016 |
| CADD Raw score (version 1.3) | 0.033343 (Deleterious) |
| FATHMM raw prediction score | 0.14526 (Tolerated) |
| Deleterious probability by DeFine | 0.441 (Neutral) |
| Entrez Gene ID | 22999 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RIMS1 (GeneCards) |
| Number of variants in RIMS1 in this database | 8 (view all the variants) |
| Full name | regulating synaptic membrane exocytosis 1 |
| Band | 6q13 |
| Other IDs | Vega: OTTHUMG00000015009 OMIM: 606629 HGNC: HGNC:17282 Ensembl: ENSG00000079841 |
| Other names | RIM, RIM1, CORD7, RAB3IP2 |
| Summary | The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012] |
| 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; |