rs2529887897
This variant is located in the ARL6 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationRetinitis pigmentosa 55;Bardet-Biedl syndrome 3
View on ClinVar →About ARL6
The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]
View all ARL6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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