rs375086818

This variant is located in the ZIC3 gene.

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ClinVar annotation

Likely Benign★★★☆
2 submitters1 publication

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

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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