rs104893678

This is a stop gained variant in the ARL6 gene.

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ClinVar annotation

Pathogenic★☆☆☆
4 submitters13 publications

Bardet-Biedl syndrome (BBS); Bardet-Biedl syndrome 3 (BBS3); Retinal dystrophy; Retinitis pigmentosa 55 (RP55)

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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