rs1266364318

This variant is located in the ZIC3 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

not provided; Heterotaxy, visceral, 1, X-linked

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About ZIC3

This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008]

View all ZIC3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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