rs587777113
This is a stop lost variant in the TBX6 gene.
▶ClinVar annotation
Pathogenic
2 submitters3 publicationsSpondylocostal dysostosis 2, autosomal recessive (SCDO2); Spondylocostal dysostosis 5 (SCDO5)
View on ClinVar →About TBX6
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]
View all TBX6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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