rs755104973

This is a splice region variant variant in the LDLRAP1 gene.

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ClinVar annotation

Pathogenic★★★☆
6 submitters9 publications

Familial hypercholesterolemia; Hypercholesterolemia, familial, 4 (FHCL4)

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About LDLRAP1

The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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