rs148288092

This variant is located in the CHL1 gene.

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ClinVar annotation

Likely Benign★★★☆

3 submitters1 publication

not provided; CHL1-related disorder

About CHL1

The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011]

View all CHL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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