rs141424911

This variant is located in the SATB2 gene.

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ClinVar annotation

Likely Benign★★★☆
4 submitters1 publication

Chromosome 2q32-q33 deletion syndrome; not provided; Inborn genetic diseases

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About SATB2

This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and cognitive disability. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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