All variants in the LDLR gene

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

11 entries on 1 page. Showing entries 1 - 11.
Legend   How to query  

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     
+/+ 6i_8i c.(940+1_941-1)_(1186+1_1187-1)del r.(?) p.(Thr315_Gly396del) Exons 7-8 - - ACGS pathogenic g.11221327_11222316del - c.941-?_1186+?del, ({0}Thr294_Gly375del) - LDLR_000137 predicted trucated protein p.T315_G396del; 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: Huijgen 2010 - - Germline - - - - - Sarah Leigh
+/+ 6i_8i c.(940+1_941-1)_(1186+1_1187-1)del r.(?) p.(Thr315_Gly396del) Exons 7-8 - - ACGS pathogenic g.11221327_11222316del - c.941-?_1186+?del, ({0}Thr294_Gly375del) - LDLR_000137 predicted trucated protein p.T315_G396del; 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: Leren 2004 - - Germline - - - - - Sarah Leigh
+?/+? 6i_8i c.(940+1_941-1)_(1186+1_1187-1)del r.(?) p.(Thr315_Gly396del) Exons 7-8 - - ACGS likely pathogenic g.11221327_11222316del - c.941-?_1186+?del - LDLR_000137 predicted trucated protein; p.T315_G396del; 3kb deletion of exons 7-8; Looks similar to LH Lueven-1 & FH00607; Detected by MLPA Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Holla 2005 - - Germline - - - - - Sarah Leigh
+?/+? 6i_8i c.(940+1_941-1)_(1186+1_1187-1)del r.(?) p.(Thr315_Gly396del) Exons 7-8 - - ACGS likely pathogenic g.11221327_11222316del - c.941-?_1186+?del - LDLR_000137 predicted trucated protein p.T315_G396del; 3012bp deletion of exons 7 - 8 (see original paper for genomic breakpoints); Similar to FH Leuven-1, FH Cape Town-2 & Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Nissen 2006 - - Germline - - - - - Sarah Leigh
+?/+? 6i_8i c.(940+1_941-1)_(1186+1_1187-1)del r.(?) p.(Thr315_Gly396del) Exons 7-8 <2% LDLR activity when Htz with unknown FH allele - ACGS likely pathogenic g.11221327_11222316del - c.941-?_1186+?del, FH Leuven-, FH Leiden-1 - LDLR_000137 predicted trucated protein; p.T315_G396del; 4kb deletion of exons 7-8; 9.5% of FH in Northwestern Netherlands (Zeegers 2004 Eur J Hum Genet 12 591); Similar to, FH Cape Town-2, FH000607 & FH001176. Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Top 1990 - - Germline - - - - - Sarah Leigh
+?/+? 6i_8i c.(940+1_941-1)_(1186+1_1187-1)del r.(?) p.(Thr315_Gly396del) Exons 7-8 2-5% LDLR activity in Hmz - ACGS likely pathogenic g.11221327_11222316del - c.940+?_1187-?del, FH Cape Town-2 - LDLR_000137 predicted trucated protein; p.T315_G396del; 2.5kb deletion of exons 7 - 8; Similar to FH Leuven-1, FH00607 & FH01176 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Henderson 1988 - - Germline - - - - - Sarah Leigh
+?/+? 6i_8i c.(940+1_941-1)_(1186+1_1187-1)del r.(?) p.(Thr315_Gly396del) Exons 7-8 - - ACGS likely pathogenic g.11221327_11222316del - c.941-?_1186+?del - LDLR_000137 predicted trucated protein; p.T315_G396del; 3.83kb deletion of exons 7-8 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Chae 1997 - - Germline - - - - - Sarah Leigh
+?/+? 6i_8i c.(940+1_941-1)_(1186+1_1187-1)del r.(?) p.(Thr315_Gly396del) Exons 7-8 Null - ACGS likely pathogenic g.11221327_11222316del - c.940+?_1187-?del, FH Cape Town-2 - LDLR_000137 predicted trucated protein; p.T315_G396del; 2.5kb deletion of exons 7 - 8; Similar to FH Leuven-1, FH00607 & FH01176 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Pimstone 1997 - - Germline - - - - - Sarah Leigh
+?/+? 6i_8i c.(940+1_941-1)_(1186+1_1187-1)del r.(?) p.(Thr315_Gly396del) Exons 7-8 - - ACGS likely pathogenic g.11221327_11222316del - c.941-?_1186+?del - LDLR_000137 predicted trucated protein p.T315_G396del; 3kb deletion of exons 7-8; Described as identical to LH Lueven-1, similar to FH Cape Town-2 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Peeters 1997 - - Germline - - - - - Sarah Leigh
+?/+ 6i_8i c.(940+1_941-1)_(1186+1_1187-1)del r.(?) p.(Thr315_Gly396del) Exons 7-8 - - ACGS likely pathogenic g.11221327_11222316del - c.941-?_1186+?del, ({0}Thr294_Gly375del) - LDLR_000137 predicted trucated protein; Deletion of exons 7 - 8 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Chmara 2010 - - Germline - 1/169 patients with LDLR mutation. 1/378 FH patients. Variant not present in Normal Non FH patients - - - Sarah Leigh
+?/+ 6i_8i c.(940+1_941-1)_(1186+1_1187-1)del r.(?) p.(Thr315_Gly396del) Exons 7-8 - - ACGS likely pathogenic g.11221327_11222316del - c.941-?_1186+?del, ({0}Thr294_Gly375del) - LDLR_000137 predicted trucated protein; Deletion of exons 7 - 8 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 - - - Sarah Leigh
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.