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)     

Protein     

RNA change     

DNA/Legacy     

Predict/MutationTaster     

P-domain     

Predict/PolyPhen     

Predict/SIFT     

Conservation     

Predict/Splice     

Enzyme activity     

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 p.(Gly545Trp) r.(?) G524W disease causing LDL-receptor class B4 PPII HumDiv probably damaging, 1; HumVar probably damaging, 0.998 Not tolerated; SIFT2 Not tolerated 0.57; (Ch, Rh, D, P, B, M, Ra, H, Rb, X, S) - Minimal LDLR activity ACGS likely pathogenic g.11226816G>T g.11116140G>T - - LDLR_001478 In vitro studies suggest precursor peptide is retained in ER PubMed: Bourbon 2008 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
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