All variants in the LDLR gene

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

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Enzyme activity     

Predict-BioInf     

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     
+?/. 2 c.131G>A r.(?) p.(Trp44*) - - - - likely pathogenic g.11210962G>A g.11100286G>A - - LDLR_000019 - PubMed: Braenne 2016, Journal: Braenne 2016 - - Germline yes - - - - Ingrid Braenne
+/+ 2 c.131G>A r.(?) p.(Trp44*) LDL-receptor class A1 - conservation: Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S ACGS pathogenic g.11210962G>A g.11100286G>A p.(Trp23*); FH Cincinnati-5 - LDLR_000019 prediction truncated protein PubMed: Yu 2002 - - Germline - not in ExAC, August 2015 - - - Sarah Leigh
+/+ 2 c.131G>A r.(?) p.(Trp44*) LDL-receptor class A1 2-5% LDLR activity when Htz conservation: Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S ACGS pathogenic g.11210962G>A g.11100286G>A p.(Trp23*); FH Cincinnati-5 - LDLR_000019 predicted trucated protein; Also reported in DE, ES, BE (Van Gaal 2001 Mol Cell Probes 15 329), NZ (European)(Laurie 2004 Atherosclerosis S5 13), CA (Wang 2005 J Lipid Res 46 366) & GB (Taylor 2007 Clin Genet 71 561). PubMed: Hobbs 1992 - - Germline - not in ExAC, August 2015 - - - Sarah Leigh
+/+ 2 c.131G>A r.(?) p.(Trp44*) LDL-receptor class A1 - conservation: Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S ACGS pathogenic g.11210962G>A g.11100286G>A p.(Trp23*); FH Cincinnati-5 - LDLR_000019 predicted trucated protein; Founder mutation in DK. PubMed: Jensen 1996 - - Germline - not in ExAC, August 2015 - - - Sarah Leigh
+/+ 2 c.131G>A r.(?) p.(Trp44*) LDL-receptor class A1 - conservation: Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S ACGS pathogenic g.11210962G>A g.11100286G>A p.(Trp23*); FH Cincinnati-5 - LDLR_000019 prediction truncated protein PubMed: Nissen 1996 - - Germline - not in ExAC, August 2015 - - - Sarah Leigh
+/+ 2 c.131G>A r.(?) p.(Trp44*) LDL-receptor class A1 - conservation: Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S ACGS pathogenic g.11210962G>A g.11100286G>A p.(Trp23*); FH Cincinnati-5 - LDLR_000019 prediction truncated protein PubMed: Pimstone 1997 - - Germline - not in ExAC, August 2015 - - - Sarah Leigh
+/+? 2 c.131G>A r.(?) p.((Trp44*) LDL-receptor class A1 - conservation: Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S ACGS pathogenic g.11210962G>A g.11100286G>A p.(Trp23*); FH Cincinnati-5 - LDLR_000019 prediction truncated protein PubMed: Chmara 2010 - - Germline - 2/169 patients with LDLR mutation. 2/378 FH patients, not present in Normal Non FH patients in this study. not in ExAC, August 2015 - - - Sarah Leigh
+/+ 2 c.131G>A r.(?) p.(Trp44*) LDL-receptor class A1 - conservation: Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S ACGS pathogenic g.11210962G>A g.11100286G>A p.(Trp23*); FH Cincinnati-5 - LDLR_000019 prediction truncated protein PubMed: Duskova 2011 - - Germline - not in ExAC, August 2015 - - - Sarah Leigh
+/. - c.131G>A r.(?) p.(Trp44Ter) - - - - pathogenic g.11210962G>A g.11100286G>A LDLR(NM_000527.5):c.131G>A (p.W44*) - LDLR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.131G>A r.(?) p.(Trp44Ter) - - - - pathogenic g.11210962G>A g.11100286G>A LDLR(NM_000527.5):c.131G>A (p.W44*) - LDLR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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