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     
?/? 17 c.2411T>C r.(?) p.(Leu804Pro) transmembrane - PolyphenII: possibly damaging, 0.523, HumVar benign, 0.193; SIFT: Not tolerated, SIFT2 Not tolerated; MutationTaster: polymorphism, 0.760563; conservation: 0.418 (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) ACGS VUS g.11240210T>C g.11129534T>C L783P - LDLR_001087 Rare only one patient identified in NL. Conservative substitution (both non-polar). PubMed: Fouchier 2005 - - Germline - not in ExAC, May 2015 - - - Sarah Leigh
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