All variants in the LDLR gene

Information The variants shown are described using the NM_000527.4 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Enzyme activity     

Predict-BioInf     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/+? 13 c.1942T>C r.(?) p.(Ser648Pro) LDL-receptor class B6 Reduced LDLR activity PolyphenII: benign, 0.12, HumVar benign, 0.083; SIFT: Tolerated, SIFT2 Tolerated; MutationTaster: polymorphism; conservation: 0.537 (Ch, Rh, D, P, B, M, Ra, H, Rb, X, Z) ACGS likely pathogenic g.11230864T>C g.11120188T>C S627P - LDLR_001557 In vitro studies suggest peptide is partially retained in ER; In vitro studies show retention in ER, reduced LDLR on cell surface, reduced LDL internalization and degradation. PubMed: Silva 2012 - - Germline - not in ExAC, February 2016 - - - Sarah Leigh
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