rs1860822078

This variant is located in the SORL1 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

About SORL1

This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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