rs140204942

This variant is located in the LRPAP1 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About LRPAP1

This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

View all LRPAP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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