rs12061739

This variant is located in the ADAMTSL4 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication

Ectopia lentis 2, isolated, autosomal recessive; not provided

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About ADAMTSL4

This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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