rs1177711455
This variant is located in the TWIST2 gene.
▶ClinVar annotation
About TWIST2
The protein encoded by this gene is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found. [provided by RefSeq, Apr 2014]
View all TWIST2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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