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     
+?/+? 11 c.1633G>T r.(?) p.(Gly545Trp) LDL-receptor class B4 Minimal LDLR activity PolyphenII: probably damaging, 1, HumVar probably damaging, 0.998; SIFT: Not tolerated, SIFT2 Not tolerated; MutationTaster: disease causing; conservation: 0.57 (Ch, Rh, D, P, B, M, Ra, H, Rb, X, S) ACGS likely pathogenic g.11226816G>T g.11116140G>T G524W - LDLR_001478 In vitro studies suggest precursor peptide is retained in ER PubMed: Bourbon 2008 - - Germline - not in ExAC, May 2015 - - - Sarah Leigh
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