rs190566840

This variant is located in the RPGRIP1L gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Meckel syndrome, type 5; Joubert syndrome 7; Nephronophthisis 8

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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