All variants in the LDLR gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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>G r.(?) p.0? disease causing signal peptide PPII HumDiv benign, 0.323; HumVar benign, 0.354 Not tolerated; SIFT2 Not tolerated 0.175; (Ch, Rh, B, M, Ra, H, X, S) - - ACGS likely pathogenic g.11200225A>G g.11089549A>G - - LDLR_000328 predicted no LDLR protein; p.(Met1Val); Translational initiation site destroyed LDLR would not be produced; Pathogenicity prediction meets criteria set by Huijgen et al European Heart Journal (2012) 33, 2325–2330. PubMed: Nauck 2001 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
+?/+? 1 c.1A>G r.(?) p.0? disease causing signal peptide PPII HumDiv benign, 0.323; HumVar benign, 0.354 Not tolerated; SIFT2 Not tolerated 0.175; (Ch, Rh, B, M, Ra, H, X, S) - - ACGS likely pathogenic g.11200225A>G g.11089549A>G - - LDLR_000328 predicted no LDLR protein; p.(Met1Val); Translational initiation site destroyed LDLR would not be produced; Pathogenicity prediction meets criteria set by Huijgen et al European Heart Journal (2012) 33, 2325–2330. PubMed: Bourbon 2008 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
+?/+? 1 c.1A>G r.(?) p.0? disease causing signal peptide PPII HumDiv benign, 0.323; HumVar benign, 0.354 Not tolerated; SIFT2 Not tolerated 0.175; (Ch, Rh, B, M, Ra, H, X, S) - - ACGS likely pathogenic g.11200225A>G g.11089549A>G - - LDLR_000328 predicted no LDLR protein; p.(Met1Val); Translational initiation site destroyed LDLR would not be produced; Pathogenicity prediction meets criteria set by Huijgen et al European Heart Journal (2012) 33, 2325–2330. PubMed: Lombardi 1997 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
+/. - c.1A>G r.(?) p.(Met1?) - - - - - - - - pathogenic g.11200225A>G g.11089549A>G LDLR(NM_000527.4):c.1A>G (p.M1?) - LDLR_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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