rs771432103
This variant is located in the RIMS1 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout RIMS1
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]
View all RIMS1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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