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     

P-domain     

Enzyme activity     

Predict-BioInf     

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     
-?/-? 15 c.2146G>A r.(?) p.(Glu716Lys) - - PolyphenII: benign, 0.01, HumVar benign, 0.004; SIFT: Tolerated, SIFT2 Tolerated; MutationTaster: polymorphism; SplicePort: 0 (exon 15A), 100 (exon 15D); NNSSP: 100 (exon 15A), 100 (exon 15D); conservation: 0.311 (Ch, Rh, D, P) ACGS likely benign g.11233855G>A g.11123179G>A E695K - LDLR_000285 - PubMed: Medeiros 2010 - - Germline - not in ExAC, May 2015 - - - Sarah Leigh
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