rs199823175

This is a variant in the SIX3 gene that changes a glycine to an cysteine.

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ClinVar annotation

Pathogenic★★★☆
9 submitters6 publications

Holoprosencephaly 2 (HPE2); Inborn genetic diseases; SIX3-related disorder; Schizencephaly; Solitary median maxillary central incisor syndrome; not specified

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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