rs1638564960

This variant is located in the SKI gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter1 publication

Shprintzen-Goldberg syndrome

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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]

View all SKI variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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