rs746533848

This variant is located in the SIX3 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter1 publication

Holoprosencephaly 2

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About SIX3

This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009]

View all SIX3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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