rs1054040147

This variant is located in the ALMS1 gene.

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ClinVar annotation

Likely Benign★★★☆

2 submitters1 publication

Alstrom syndrome; not provided

About ALMS1

This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]

View all ALMS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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