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.-208A>T r.(=) p.? - SREBP1/FP1 - - 12/12 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 100% of wt trascriptional activity (luciferase assay). ACGS likely benign g.11200017A>T g.11089341A>T - - LDLR_001268 prediction no effect on transcription PubMed: De Castro-Oros 2011 - - Germline - 0.06 in this study - 0 - Sarah Leigh
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