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>A r.(?) p.(Ala19Glu) polymorphism signal peptide PPII HumDiv possibly damaging, 0.646; HumVar benign, 0.183 Not tolerated; SIFT2 Not tolerated 0.196; (Ch, Rh, M, Ra, H, Rb) - - ACGS VUS g.11200280C>A g.11089604C>A A-3E - LDLR_000401 - PubMed: Shin 2000 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
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