rs397514590

This is a variant in the SKI gene that changes a proline to an serine.

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ClinVar annotation

Pathogenic★★★☆
6 submitters8 publications

Familial thoracic aortic aneurysm and aortic dissection (TAAD); Shprintzen-Goldberg syndrome (SGS)

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About SKI

This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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