rs757393817
This variant is located in the CPLANE1 gene.
▶ClinVar annotation
Uncertain Significance★★★☆
2 submitters1 publicationAbout CPLANE1
The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]
View all CPLANE1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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