rs483353005

This variant is located in the TBX20 gene.

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ClinVar annotation

Uncertain Significance

1 submitter

Atrial septal defect 4

About TBX20

This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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