All variants in the LDLR gene

Information The variants shown are described using the NM_000527.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.-142C>T r.(=) p.(=) - SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 20% of wt transcription using luciferase assay & blocks ability to bind Sp1 (gel retardation assays). ACGS VUS g.11200083C>T g.11089407C>T - - LDLR_000857 predicted reduced transcription; Hobb's numbering -49; Reduced expression in luciferase reporter assay & blocks ability to bind Sp1 (gel retardation assays); No other variants found in proband, but some relatives with c.-142C>T do not have FH. PubMed: Mozas 2002 - - Germline - - - 0 - Sarah Leigh
?/? 1 c.-142C>T r.(=) p.(=) - SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 20% of wt transcription using luciferase assay & blocks ability to bind Sp1 (gel retardation assays). ACGS VUS g.11200083C>T g.11089407C>T - - LDLR_000857 predicted reduced transcription; Hobb's numbering -49; Reduced expression in luciferase reporter assay & blocks ability to bind Sp1 (gel retardation assays); {PMID11792717:Mozas et al 2002 J Lipid Res 43 13} PubMed: Leren 2004 - - Germline - - - 0 - Sarah Leigh
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