rs762753048
This variant is located in the GPC6 gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter1 publicationAbout GPC6
The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016]
View all GPC6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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