All variants in the LDLR gene

Information The variants shown are described using the NM_000527.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.1A>C r.(?) p.0? disease causing signal peptide PPII HumDiv benign, 0.167; HumVar benign, 0.354 Not tolerated; SIFT2 Not tolerated 0.175; (Ch, Rh, B, M, Ra, H, X, S) - - ACGS likely pathogenic g.11200225A>C g.11089549A>C - - LDLR_000356 predicted no LDLR protein; p.(Met1Leu); Translational initiation site destroyed LDLR would not be produced PubMed: Tosi 2007 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
+?/+? 1 c.1A>C r.(?) p.0? disease causing signal peptide PPII HumDiv benign, 0.167; HumVar benign, 0.354 Not tolerated; SIFT2 Not tolerated 0.175; (Ch, Rh, B, M, Ra, H, X, S) - - ACGS likely pathogenic g.11200225A>C g.11089549A>C - - LDLR_000356 predicted no LDLR protein; p.(Met1Leu); Translational initiation site destroyed LDLR would not be produced PubMed: Chaves 2001 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
+?/+? 1 c.1A>C r.(?) p.0? disease causing signal peptide PPII HumDiv benign, 0.167; HumVar benign, 0.354 Not tolerated; SIFT2 Not tolerated 0.175; (Ch, Rh, B, M, Ra, H, X, S) - - ACGS likely pathogenic g.11200225A>C g.11089549A>C - - LDLR_000356 predicted no LDLR protein; p.(Met1Leu); Translational initiation site destroyed LDLR would not be produced PubMed: Fouchier 2005 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
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