rs866307238

This variant is located in the EMILIN3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Marfanoid habitus and intellectual disability

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About EMILIN3

Enables identical protein binding activity. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2025]

View all EMILIN3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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