rs1255119007

This variant is located in the CELSR3 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About CELSR3

This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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