rs148591528

This variant is located in the SIX6 gene.

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ClinVar annotation

Likely Benign★★★☆

2 submitters

Anophthalmia-microphthalmia syndrome; not provided

About SIX6

The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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