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.-140C>T r.(=) p.(=) - SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 6% of wt trascriptional activity (luciferase assay). 25% reduction of nuclear protein binding in (EMSA assay) ACGS likely pathogenic g.11200085C>T g.11089409C>T - - LDLR_000323 predicted reduced transcription; Proband also carries c.858C>A, p.(Ser286Arg)(probably pathogenic) PubMed: De Castro-Oros 2011 - - Germline - 0.06 in this study - 0 - Sarah Leigh
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