rs387906867
This is a variant in the SIX3 gene that changes a glutamate to an lysine.
▶ClinVar annotation
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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