rs565391841

This variant is located in the FERMT1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter

Kindler syndrome

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About FERMT1

This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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