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.-185_-183del r.(=) p.(=) - SREBP1 binding site - - - - 5-15% LDLR activity when Htz with FH Pedi-1 (c.172delG, p.(Glu58Serfs*148)). 10% of wt luciferase activity ACGS likely pathogenic g.11200040_11200042del g.11089364_11089366del c.-185_-183delCTT, FH Pedi-2 - LDLR_000103 predicted reduced transcription; Hobb's numbering: -92_-90del; Variant reduces activity in luciferase assay without presence of FH Pedi-1 (c.172delG, p.(Glu58Serfs*148)); DNase I footprinting indicated that this variant abolished Sp1 binding to SREBP repeat 1 in the LDLR promoter PubMed: Peeters 1998 - - Germline - - - 0 - Sarah Leigh
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