rs2488711534
This variant is located in the VLDLR gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout VLDLR
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009]
View all VLDLR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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