rs1564493599
This variant is located in the TRPM3 gene.
▶ClinVar annotation
not provided; Seizure;Global developmental delay; Intellectual disability; Mulibrey nanism syndrome; TRPM3-related disorder; Autosomal dominant non-syndromic intellectual disability; Birk-Barel syndrome; Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures; Inborn genetic diseases
View on ClinVar →About TRPM3
The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
View all TRPM3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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