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PDGFD

Synonyms
IEGF, MSTP036, SCDGF-B, SCDGFB
External resources
Summary
The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines, seven of which are found in this factor. This gene product only forms homodimers and, therefore, does not dimerize with the other three family members. It differs from alpha and beta members of this family in having an unusual N-terminal domain, the CUB domain. Two splice variants have been identified for this gene.

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
2,399
Likely benign
597
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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