rs1449022699
This variant is located in the RPGRIP1L gene.
▶ClinVar annotation
About RPGRIP1L
The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]
View all RPGRIP1L variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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