rs200913791

This is a variant in the RASSF1 gene that changes a leucine to an proline.

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ClinVar annotation

Pathogenic★☆☆☆

3 submitters3 publications

Primary ciliary dyskinesia; Primary ciliary dyskinesia 22

About RASSF1

This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found to interact with DNA repair protein XPA. The protein was also shown to inhibit the accumulation of cyclin D1, and thus induce cell cycle arrest. Several alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, May 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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