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     

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     
+?/+? 1 c.28T>A r.(?) p.(Trp10Arg) polymorphism signal peptide PPII HumDiv possibly damaging, 0.836; HumVar possibly damaging, 0.549 Not tolerated; SIFT2 Not tolerated 0.114; (Ch, Rh, B, M, Ra, H, Ck) - 40% LDLR activity in fibroblasts of de novo Htz ACGS likely pathogenic g.11200252T>A g.11089576T>A W-12R; FH Enna - LDLR_001681 Impairs the co-translational translocation of the nascent receptor I protein across the endoplasmic reticulum membrane; De novo mutation in proband, paternity proven PubMed: Cassanelli 1998 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
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