rs200673151

This variant is located in the TBX10 gene.

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ClinVar annotation

Likely Benign

1 submitter

TBX10-related disorder

About TBX10

This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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