rs946543006

This variant is located in the SKI gene.

▶

ClinVar annotation

Uncertain Significance★★★☆
4 submitters2 publications

not provided; Shprintzen-Goldberg syndrome; Familial thoracic aortic aneurysm and aortic dissection

View on ClinVar →

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]

View all SKI variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…