All variants in the LDLR gene

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

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

RNA change     

DNA/Legacy     

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     
+?/+? 12 c.1720C>T p.(Arg574Cys) r.(?) R553C disease causing LDL-receptor class B5 PPII HumDiv probably damaging, 1; HumVar probably damaging, 0.998 Not tolerated; SIFT2 Not tolerated 0.972; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS likely pathogenic g.11227549C>T g.11116873C>T - - LDLR_000232 CpG mutation. Charged(+)-polar>Uncharged-polar. Segregation reported {PMID23375686: Bertolini Atherosclerosis. 2013 Apr;227(2):342-8}. PubMed: Nauck 2001 - rs185098634 Germline - 0.00002471 ExAC, May 2015 - 0 - Sarah Leigh
+?/+? 12 c.1720C>T p.(Arg574Cys) r.(?) R553C disease causing LDL-receptor class B5 PPII HumDiv probably damaging, 1; HumVar probably damaging, 0.998 Not tolerated; SIFT2 Not tolerated 0.972; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS likely pathogenic g.11227549C>T g.11116873C>T - - LDLR_000232 CpG mutation. Charged(+)-polar>Uncharged-polar. Segregation reported {PMID23375686: Bertolini Atherosclerosis. 2013 Apr;227(2):342-8}. PubMed: Damgaard 2005 - rs185098634 Germline - 0.00002471 ExAC, May 2015 - 0 - Sarah Leigh
+?/+? 12 c.1720C>T p.(Arg574Cys) r.(?) R553C disease causing LDL-receptor class B5 PPII HumDiv probably damaging, 1; HumVar probably damaging, 0.998 Not tolerated; SIFT2 Not tolerated 0.972; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS likely pathogenic g.11227549C>T g.11116873C>T - - LDLR_000232 CpG mutation. Charged(+)-polar>Uncharged-polar. Segregation reported {PMID23375686: Bertolini Atherosclerosis. 2013 Apr;227(2):342-8}. PubMed: Chmara 2010 - rs185098634 Germline - 2/169 patients with LDLR mutation. 2/378 FH patients. Variant not present in Normal Non FH patients in this study. 0.00002471 ExAC, May 2015 - 0 - Sarah Leigh
+?/+? 12 c.1720C>T p.(Arg574Cys) r.(?) R553C disease causing LDL-receptor class B5 PPII HumDiv probably damaging, 1; HumVar probably damaging, 0.998 Not tolerated; SIFT2 Not tolerated 0.972; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS likely pathogenic g.11227549C>T g.11116873C>T - - LDLR_000232 CpG mutation. Charged(+)-polar>Uncharged-polar. Segregation reported {PMID23375686: Bertolini Atherosclerosis. 2013 Apr;227(2):342-8}. PubMed: Alonso 2009 - rs185098634 Germline - 2/169 patients with LDLR mutation. 2/378 FH patients. Variant not present in Normal Non FH patients in this study. 0.00002471 ExAC, May 2015 - 0 - Sarah Leigh
+?/+? 12 c.1720C>T p.(Arg574Cys) r.(?) R553C disease causing LDL-receptor class B5 PPII HumDiv probably damaging, 1; HumVar probably damaging, 0.998 Not tolerated; SIFT2 Not tolerated 0.972; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS likely pathogenic g.11227549C>T g.11116873C>T - - LDLR_000232 CpG mutation. Charged(+)-polar>Uncharged-polar. Segregation reported {PMID23375686: Bertolini Atherosclerosis. 2013 Apr;227(2):342-8}. PubMed: Guardamagna 2009 - rs185098634 Germline - 0.00002471 ExAC, May 2015 - 0 - Sarah Leigh
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