All variants in the LDLR gene

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

11 entries on 1 page. Showing entries 1 - 11.
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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.58G>A r.(?) p.(Gly20Arg) polymorphism signal peptide PPII HumDiv benign, 0.12; HumVar benign, 0.099 Tolerated; SIFT2 Tolerated 0.186; (Ch, M, Ra, H, Rb) - - ACGS likely benign g.11200282G>A g.11089606G>A G-2R - LDLR_000013 Non-polar>Charged(+)-polar PubMed: Amsellem 2002 - rs147509697 Germline - 0.001046 ExAC, May 2015 - 0 - Sarah Leigh
-?/-? 1 c.58G>A r.(?) p.(Gly20Arg) polymorphism signal peptide PPII HumDiv benign, 0.12; HumVar benign, 0.099 Tolerated; SIFT2 Tolerated 0.186; (Ch, M, Ra, H, Rb) - - ACGS likely benign g.11200282G>A g.11089606G>A G-2R - LDLR_000013 Non-polar>Charged(+)-polar PubMed: Laurie 2004 - rs147509697 Germline - 0.001046 ExAC, May 2015 - 0 - Sarah Leigh
-?/-? 1 c.58G>A r.(?) p.(Gly20Arg) polymorphism signal peptide PPII HumDiv benign, 0.12; HumVar benign, 0.099 Tolerated; SIFT2 Tolerated 0.186; (Ch, M, Ra, H, Rb) - - ACGS likely benign g.11200282G>A g.11089606G>A G-2R - LDLR_000013 Non-polar>Charged(+)-polar PubMed: Sozen 2005 - rs147509697 Germline - 0.001046 ExAC, May 2015 - 0 - Sarah Leigh
-?/-? 1 c.58G>A r.(?) p.(Gly20Arg) polymorphism signal peptide PPII HumDiv benign, 0.12; HumVar benign, 0.099 Tolerated; SIFT2 Tolerated 0.186; (Ch, M, Ra, H, Rb) - - ACGS likely benign g.11200282G>A g.11089606G>A G-2R - LDLR_000013 Non-polar>Charged(+)-polar PubMed: Fouchier 2005 - rs147509697 Germline - 0.001046 ExAC, May 2015 - 0 - Sarah Leigh
-?/-? 1 c.58G>A r.(?) p.(Gly20Arg) polymorphism signal peptide PPII HumDiv benign, 0.12; HumVar benign, 0.099 Tolerated; SIFT2 Tolerated 0.186; (Ch, M, Ra, H, Rb) - - ACGS likely benign g.11200282G>A g.11089606G>A G-2R - LDLR_000013 Corrected after personal communication with author. Non-polar>Charged(+)-polar PubMed: Widhalm 2007 - rs147509697 Germline - 0.001046 ExAC, May 2015 - 0 - Sarah Leigh
-?/-? 1 c.58G>A r.(?) p.(Gly20Arg) polymorphism signal peptide PPII HumDiv benign, 0.12; HumVar benign, 0.099 Tolerated; SIFT2 Tolerated 0.186; (Ch, M, Ra, H, Rb) - - ACGS likely benign g.11200282G>A g.11089606G>A G-2R - LDLR_000013 Non-polar>Charged(+)-polar PubMed: Duskova 2011 - rs147509697 Germline - 0.001046 ExAC, May 2015 - 0 - Sarah Leigh
-?/+? 1 c.58G>A r.(?) p.(Gly20Arg) polymorphism signal peptide PPII HumDiv benign, 0.12; HumVar benign, 0.099 Tolerated; SIFT2 Tolerated 0.186; (Ch, M, Ra, H, Rb) - - ACGS likely benign g.11200282G>A g.11089606G>A G-2R - LDLR_000013 Non-polar>Charged(+)-polar PubMed: Chmara 2010 - rs147509697 Germline - 1/169 patients with LDLR mutation. 1/378 FH patients. Variant not present in Normal Non FH patients, in this study. 0.001046 ExAC, May 2015 - 0 - Sarah Leigh
-?/+? 1 c.58G>A r.(?) p.(Gly20Arg) polymorphism signal peptide PPII HumDiv benign, 0.12; HumVar benign, 0.099 Tolerated; SIFT2 Tolerated 0.186; (Ch, M, Ra, H, Rb) - - ACGS likely benign g.11200282G>A g.11089606G>A G-2R - LDLR_000013 Non-polar>Charged(+)-polar PubMed: Alonso 2009 - rs147509697 Germline - 0.001046 ExAC, May 2015 - 0 - Sarah Leigh
-?/? 1 c.58G>A r.(?) p.(Gly20Arg) polymorphism signal peptide PPII HumDiv benign, 0.12; HumVar benign, 0.099 Tolerated; SIFT2 Tolerated 0.186; (Ch, M, Ra, H, Rb) - - ACGS likely benign g.11200282G>A g.11089606G>A G-2R - LDLR_000013 Non-polar>Charged(+)-polar PubMed: Bertolini 2013 - rs147509697 Germline - 0.001046 ExAC, May 2015 - 0 - Sarah Leigh
-?/-? 1 c.58G>A r.(?) p.(Gly20Arg) polymorphism signal peptide PPII HumDiv benign, 0.12; HumVar benign, 0.099 Tolerated; SIFT2 Tolerated 0.186; (Ch, M, Ra, H, Rb) - - ACGS likely benign g.11200282G>A g.11089606G>A G-2R - LDLR_000013 Non-polar>Charged(+)-polar PubMed: Komarova 2013 - rs147509697 Germline - 0.001046 ExAC, May 2015 - 0 - Sarah Leigh
-?/. - c.58G>A r.(?) p.(Gly20Arg) - - - - - - - - likely benign g.11200282G>A g.11089606G>A LDLR(NM_000527.4):c.58G>A (p.G20R) - LDLR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
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