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SOSTDC1

Synonyms
CDA019, DAND7, ECTODIN, USAG1
External resources
Summary
This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
3,522
Likely benign
313
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SOSTDC1 gene.

Phenotype class
Patients in 3billion (%)

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