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     

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_1i c.(?_-187)_(67+1_68-1)del r.(?) p.0? - promotor & exon 1 - - - - - ACGS pathogenic g.11200038_11200292del - c.-187-?_67+?del - LDLR_000007 predicted no protein; 13kb deletion of promotor & exon 1; Predicted to be pathogenic according to criteria set by Huijgen et al European Heart Journal (2012) 33, 2325–2330. Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Fouchier 2005 - - Germline - - - 0 - Sarah Leigh
+/+ _1_1i c.(?_-187)_(67+1_68-1)del r.(?) p.0? - Promotor - exon 1 - - - - - ACGS pathogenic g.11200038_11200292del - c.-187-?_67+?del, FH Valencia-5 - LDLR_000007 predicted no protein; 6.8kb deletion of promotor & exon 1; Similar to FH Denver-1 (6kb deletion of promotor & exon 1); No mRNA Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Chaves 2001 - - Germline - - - 0 - Sarah Leigh
+/+ _1_1i c.(?_-187)_(67+1_68-1)del r.(?) p.0? - Promotor - exon 1 - - - - - ACGS pathogenic g.11200038_11200292del - c.-187-?_67+?del - LDLR_000007 predicted no protein; 13kb deletion of exon 1 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Fouchier 2005 - - Germline - - - 0 - Sarah Leigh
+/+ _1_1i c.(?_-187)_(67+1_68-1)del r.(?) p.0? - Promotor - exon 1 - - - - - ACGS pathogenic g.11200038_11200292del - c.-187-?_67+?del - LDLR_000007 predicted no protein; Deletion of promoter & exon 1; Found in one proband Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Tichy 2012 - - Germline - 0.19 in this study - 0 - Sarah Leigh
+/+ _1_1i c.(?_-187)_(67+1_68-1)del r.(?) p.0? - Promotor - exon 1 - - - - - ACGS pathogenic g.11200038_11200292del - c.-187-?_67+?del - LDLR_000007 predicted no protein; Deletion of exon 1; No details given of size, could be the same as other exon 1 deletions. Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Koeijvoets 2005 - - Germline - - - 0 - Sarah Leigh
+/+ _1_1i c.(?_-187)_(67+1_68-1)del r.(?) p.0? - Promoter - exon 1 - - - - - ACGS pathogenic g.11200038_11200292del - c.-187-?_67+?del - LDLR_000007 predicted no protein; 9325bp deletion of promotor & exon 1 (see original paper for genomic breakpoints); Not the same as FH French Canadian-1 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Nissen 2006 - - Germline - - - 0 - Sarah Leigh
+/+ _1_1i c.(?_-187)_(67+1_68-1)del r.(?) p.0? - Promotor - exon 1 - - - - <2% LDLR activity when Htz with unknown FH allele ACGS pathogenic g.11200038_11200292del - c.-187-?_67+?del, FH Denver-1 - LDLR_000007 predicted no protein; Deletion of promotor & exon 1 (6kb); No detectable mRNA Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Hobbs 1988 - - Germline - - - 0 - Sarah Leigh
+/+ _1_1i c.(?_-187)_(67+1_68-1)del r.(?) p.0? - Promotor - exon 1 - - - - <2% LDLR activity in Hmz ACGS pathogenic g.11200038_11200292del - c.-187-?_67+?del, FH French Canadian-1 - LDLR_000007 predicted no protein; Deletion of promotor & exon 1 (>10kb); Found in 60% French Canadian FH Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Hobbs 1987 - - Germline - - - 0 - Sarah Leigh
+/+ _1_1i c.(?_-187)_(67+1_68-1)del r.(?) p.0? - Promotor - exon 1 - - - - - ACGS pathogenic g.11200038_11200292del - c.-187-?_67+?del - LDLR_000007 predicted no protein; Deletion of promotor & exon 1, size of deletion not stated; Reported in 2 probands but may be different deletions in each. Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Marduel 2010 - - Germline - NA - 0 - Sarah Leigh
+/+ _1_1i c.(?_-187)_(67+1_68-1)del r.(?) p.0? - Promotor - exon 1 - - - - - ACGS pathogenic g.11200038_11200292del - c.-187-?_67+?del - LDLR_000007 predicted no protein; Deletion >30 kb upstream of promotor & exon 1 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Sharifi 2016 - - Germline - NA - 0 - Sarah Leigh
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