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     
+?/. 6 c.828C>A p.(Cys276*) r.(?) - - - - - - - - - likely pathogenic g.11218078C>A g.11107402C>A - - LDLR_000506 - PubMed: Braenne 2016, Journal: Braenne 2016 - - Germline no - - 0 - Ingrid Braenne
+/+ 6 c.828C>A p.(Cys276*) r.(=) p.(Cys255*) - LDL-receptor class A7 - - 0,64; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS pathogenic g.11218078C>A g.11107402C>A - - LDLR_000506 predicted trucated protein; First reported in AT PubMed: Mozas 2000 - - Germline - not in ExAC, August 2015 - 0 - Sarah Leigh
+/+ 6 c.828C>A p.(Cys276*) r.(=) p.(Cys255*) - LDL-receptor class A7 - - 0,64; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS pathogenic g.11218078C>A g.11107402C>A - - LDLR_000506 prediction truncated protein PubMed: Widhalm 2007 - - Germline - 0.01 in this study; not in ExAC, August 2015 - 0 - Sarah Leigh
+/+ 6 c.828C>A p.(Cys276*) r.(=) p.(Cys255*) - LDL-receptor class A7 - - 0,64; (Ch, Rh, Dg, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS pathogenic g.11218078C>A g.11107402C>A - - LDLR_000506 prediction truncated protein PubMed: Chiou 2010 - - Germline - 1/102 FH patients. Variant not present in Normal Non FH patients. not in ExAC, August 2015 - 0 - Sarah Leigh
+/+ 6 c.828C>A p.(Cys276*) r.(=) p.(Cys255*) - LDL-receptor class A7 - - 0,64; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS pathogenic g.11218078C>A g.11107402C>A - - LDLR_000506 prediction truncated protein PubMed: Duskova 2011 - - Germline - not in ExAC, August 2015 - 0 - Sarah Leigh
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