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     
+?/+? 3 c.265T>C p.(Cys89Arg) r.(?) C68R; FH Catanzaro disease causing LDL-receptor class A2 PPII HumDiv probably damaging, 1; HumVar probably damaging, 1 Not tolerated; SIFT2 Not tolerated 1; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS likely pathogenic g.11213414T>C g.11102738T>C - - LDLR_000039 - PubMed: Bourbon 2008 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
+?/+? 3 c.265T>C p.(Cys89Arg) r.(?) C68R; FH Catanzaro disease causing LDL-receptor class A2 PPII HumDiv probably damaging, 1; HumVar probably damaging, 1 Not tolerated; SIFT2 Not tolerated 1; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS likely pathogenic g.11213414T>C g.11102738T>C - - LDLR_000039 Uncharged-polar>Charged)+)-polar. Segregation reported in {PMID17765246:Bourbon et al 2008 Atherosclerosis 196 633} PubMed: Fouchier 2005 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
+?/+? 3 c.265T>C p.(Cys89Arg) r.(?) C68R; FH Catanzaro disease causing LDL-receptor class A2 PPII HumDiv probably damaging, 1; HumVar probably damaging, 1 Not tolerated; SIFT2 Not tolerated 1; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS likely pathogenic g.11213414T>C g.11102738T>C - - LDLR_000039 Uncharged-polar>Charged)+)-polar. Segregation reported in {PMID17765246:Bourbon et al 2008 Atherosclerosis 196 633} PubMed: Blesa 2006 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
+?/+? 3 c.265T>C p.(Cys89Arg) r.(?) C68R; FH Catanzaro disease causing LDL-receptor class A2 PPII HumDiv probably damaging, 1; HumVar probably damaging, 1 Not tolerated; SIFT2 Not tolerated 1; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - <5%LDLR activity when compound Htz with c.1775G>A, p.(Gly592Glu)(FH Foggia-1) ACGS likely pathogenic g.11213414T>C g.11102738T>C - - LDLR_000039 Uncharged-polar>Charged)+)-polar. Segregation reported in {PMID17765246:Bourbon et al 2008 Atherosclerosis 196 633} PubMed: Bertolini 1999 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
+?/+? 3 c.265T>C p.(Cys89Arg) r.(?) C68R disease causing LDL-receptor class A2 PPII HumDiv probably damaging, 1; HumVar probably damaging, 1 Not tolerated; SIFT2 Not tolerated 1; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS likely pathogenic g.11213414T>C g.11102738T>C - - LDLR_000039 Uncharged-polar>Charged)+)-polar. Segregation reported in {PMID17765246:Bourbon et al 2008 Atherosclerosis 196 633} PubMed: Chmara 2010 - - Germline - 2/169 patients with LDLR mutation. 2/378 FH patients. Variant not present in Normal Non FH patients in this study. not in ExAC, May 2015 - 0 - Sarah Leigh
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