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)     

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     
-?/-? 4 c.344G>A p.(Arg115His) r.(?) R94H; FH Fukuoka disease causing LDL-receptor class A3 PPII HumDiv benign, 0.157; HumVar benign, 0.128 Tolerated; SIFT2 Not tolerated 0.54; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, Z) - 64% LDLR on cell surface, 64% LDL binding and internalization in transfected COS cells {PMID12837857:Chang et al 2003 J Lipid Res 44 1850}. ACGS likely pathogenic g.11215926G>A g.11105250G>A - - LDLR_000052 predicted retained in ER; Reported as a Htz in one clinically Htz FH patient; Functional analysis reveals retention in ER; Also reported in ZA PubMed: Khoo 2000 - rs201102461 Germline - 0.0001838 ExAC, May 2015 - 0 - Sarah Leigh
-?/-? 4 c.344G>A p.(Arg115His) r.(?) R94H; FH Fukuoka disease causing LDL-receptor class A3 PPII HumDiv benign, 0.157; HumVar benign, 0.128 Tolerated; SIFT2 Not tolerated 0.54; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, Z) - 64% LDLR on cell surface, 64% LDL binding and internalization in transfected COS cells {PMID12837857:Chang et al 2003 J Lipid Res 44 1850}. ACGS likely pathogenic g.11215926G>A g.11105250G>A - - LDLR_000052 predicted retained in ER; Functional analysis reveals retention in ER. PubMed: Yu 2002 - rs201102461 Germline - 0.0001838 ExAC, May 2015 - 0 - Sarah Leigh
-?/-? 4 c.344G>A p.(Arg115His) r.(?) R94H; FH Fukuoka disease causing LDL-receptor class A3 PPII HumDiv benign, 0.157; HumVar benign, 0.128 Tolerated; SIFT2 Not tolerated 0.54; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, Z) - 64% LDLR on cell surface, 64% LDL binding and internalization in transfected COS cells {PMID12837857:Chang et al 2003 J Lipid Res 44 1850}. ACGS likely pathogenic g.11215926G>A g.11105250G>A - - LDLR_000052 predicted retained in ER; Functional analysis reveals retention in ER. PubMed: Kim 2004 - rs201102461 Germline - 0.0001838 ExAC, May 2015 - 0 - Sarah Leigh
-?/+? 4 c.344G>A p.(Arg115His) r.(?) R94H; FH Fukuoka disease causing LDL-receptor class A3 PPII HumDiv benign, 0.157; HumVar benign, 0.128 Tolerated; SIFT2 Not tolerated 0.54; (Ch, Rh, Dg, P, B, M, Ra, H, Rb, Ck, Z) - 64% LDLR on cell surface, 64% LDL binding and internalization in transfected COS cells {PMID12837857:Chang et al 2003 J Lipid Res 44 1850}. ACGS likely pathogenic g.11215926G>A g.11105250G>A - - LDLR_000052 predicted retained in ER; Functional analysis reveals retention in ER. PubMed: Chiou 2010 - rs201102461 Germline - 1/102 FH patients. Variant not present in Normal Non FH patients in this study. 0.0001838 ExAC, May 2015 - 0 - Sarah Leigh
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