RIMS1 Chromosome 6
Regulating synaptic membrane exocytosis 1
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What This Gene Does
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]
Gene Info
Gene Group
"Regulating synaptic membrane exocytosis family|PDZ domain containing"
Locus Type
gene with protein product
Location
6q13
Ensembl
ENSG00000079841
Associated Conditions (7)
Ornithine aminotransferase deficiency
Cone-rod dystrophy 7
Retinal dystrophy
RIMS1-related disorder
Retinitis pigmentosa
Leber congenital amaurosis
Autism spectrum disorder
Key Variants
RS1057519205
Conflicting classifications of pathogenicity
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
Health Risk
RS121918302
Conflicting classifications of pathogenicity
Cone-rod dystrophy 7, Retinal dystrophy, Cone-rod dystrophy 7
Health Risk
RS1277312139
Conflicting classifications of pathogenicity
Health Risk
RS140943787
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS149883454
Conflicting classifications of pathogenicity
Cone-rod dystrophy 7, Cone-rod dystrophy 7
Health Risk
RS181193740
Conflicting classifications of pathogenicity
RIMS1-related disorder, RIMS1-related disorder
Health Risk
RS192179523
Conflicting classifications of pathogenicity
Health Risk
RS199629596
Conflicting classifications of pathogenicity
Cone-rod dystrophy 7, Cone-rod dystrophy 7
Health Risk
RS200005095
Conflicting classifications of pathogenicity
Cone-rod dystrophy 7, RIMS1-related disorder, Cone-rod dystrophy 7
Health Risk
RS200637817
Conflicting classifications of pathogenicity
Cone-rod dystrophy 7, Retinal dystrophy, Cone-rod dystrophy 7
Health Risk
RS200935038
Conflicting classifications of pathogenicity
Cone-rod dystrophy 7, Cone-rod dystrophy 7
Health Risk
RS201017334
Conflicting classifications of pathogenicity
Cone-rod dystrophy 7, Retinal dystrophy, Cone-rod dystrophy 7
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057519205 | Health Risk | Conflicting classifications of pathogenicity | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121918302 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Retinal dystrophy, Cone-rod dystrophy 7 |
| RS1277312139 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140943787 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS149883454 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Cone-rod dystrophy 7 |
| RS181193740 | Health Risk | Conflicting classifications of pathogenicity | RIMS1-related disorder, RIMS1-related disorder |
| RS192179523 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199629596 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Cone-rod dystrophy 7 |
| RS200005095 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, RIMS1-related disorder, Cone-rod dystrophy 7 |
| RS200637817 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Retinal dystrophy, Cone-rod dystrophy 7 |
| RS200935038 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Cone-rod dystrophy 7 |
| RS201017334 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Retinal dystrophy, Cone-rod dystrophy 7 |
| RS201355053 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Cone-rod dystrophy 7 |
| RS201454406 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201473375 | Health Risk | Conflicting classifications of pathogenicity | RIMS1-related disorder, RIMS1-related disorder |
| RS201556693 | Health Risk | Conflicting classifications of pathogenicity | RIMS1-related disorder, RIMS1-related disorder |
| RS201798320 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Cone-rod dystrophy 7 |
| RS202076893 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Retinal dystrophy, Cone-rod dystrophy 7 |
| RS367601102 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Cone-rod dystrophy 7 |
| RS368216570 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Cone-rod dystrophy 7 |
| RS368839251 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376566413 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS376761576 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Cone-rod dystrophy 7 |
| RS531497232 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS541997223 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Cone-rod dystrophy 7 |
| RS562081460 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587783021 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis, Cone-rod dystrophy 7, Leber congenital amaurosis |
| RS747607657 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS747921988 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, RIMS1-related disorder, Cone-rod dystrophy 7 |
| RS752875047 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Retinal dystrophy, Cone-rod dystrophy 7 |
| RS757160554 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Cone-rod dystrophy 7 |
| RS762158019 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Cone-rod dystrophy 7 |
| RS767699562 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Cone-rod dystrophy 7 |
| RS769791945 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Cone-rod dystrophy 7 |
| RS769837216 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Cone-rod dystrophy 7 |
| RS771519899 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772471723 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778273984 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Cone-rod dystrophy 7 |
| RS886061708 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Cone-rod dystrophy 7 |
| RS946973429 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 7, Cone-rod dystrophy 7 |
| RS1590681805 | Health Risk | Likely pathogenic | Cone-rod dystrophy 7, Cone-rod dystrophy 7 |
| RS560702162 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |