All variants in the LDLR gene

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+/+ 1 c.12G>A r.(?) p.(Trp4*) - signal peptide - - - - - ACGS pathogenic g.11200236G>A g.11089560G>A W-18X ; FH Nanjing-1 - LDLR_000357 predicted no protein; Found as double variant with: c.829G>A, p.E277K, as a triple mutant with: c.346T>C, p.C116R & c.829G>A, p.E277K and as a compound Htz with: [c.12G>A, p.W4X; c.829G>A, p.E277K] + [c.829G>A, p.E277K] (Mozas 2004 Hum Mutat Mutation in Brief 735) PubMed: Cenarro 1998 - - Germline - not in ExAC, August 2015 - 0 - Sarah Leigh
+/+ 1 c.12G>A r.(?) p.(Trp4*) - signal peptide - - - - <2% LDLR activity when Htz with c.2012delC, p.(Leu672*), FH Nanjing-2 ACGS pathogenic g.11200236G>A g.11089560G>A W-18X ; FH Nanjing-1 - LDLR_000357 prediction no protein PubMed: Hobbs 1992 - - Germline - not in ExAC, August 2015 - 0 - Sarah Leigh
+/+ 1 c.12G>A r.(?) p.(Trp4*) - signal peptide - - - - - ACGS pathogenic g.11200236G>A g.11089560G>A W-18X ; FH Nanjing-1 - LDLR_000357 prediction no protein PubMed: Robles-Osorio 2006 - - Germline - not in ExAC, August 2015 - 0 - Sarah Leigh
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