rs104893680
This is a variant in the ARL6 gene that changes a threonine to an methionine.
▶ClinVar annotation
Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 3 (BBS3); Retinitis pigmentosa (RP); Retinitis pigmentosa 55 (RP55)
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…