rs267601541

This variant is located in the PDGFA gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About PDGFA

This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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