rs973537840
This variant is located in the ADGRV1 gene.
▶ClinVar annotation
About ADGRV1
This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]
View all ADGRV1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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