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.56C>T r.(?) p.(Ala19Val) polymorphism signal peptide PPII HumDiv benign, 0.013; HumVar benign, 0.003 Not tolerated; SIFT2 Not tolerated 0.196; (Ch, Rh, M, Ra, H, Rb) - - ACGS VUS g.11200280C>T g.11089604C>T A-3V - LDLR_000012 - PubMed: Usifo 2012 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
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