All variants in the LDLR gene

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

2 entries on 1 page. Showing entries 1 - 2.
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     
+?/+? 8 c.1066G>C r.(?) p.(Asp356His) EGF-like 2 - PolyphenII: probably damaging, 1, HumVar probably damaging, 0.995; SIFT: Not tolerated, SIFT2 Not tolerated; MutationTaster: disease causing; conservation: 0.845 (Ch, Rh, D, P, B, M, Ra, H, Ck, Z, S) ACGS likely pathogenic g.11222195G>C g.11111519G>C D335H; FH Kanagawa - LDLR_000158 - PubMed: Maruyama 2004 - - Germline - not in ExAC, May 2015 - - - Sarah Leigh
+?/+? 8 c.1066G>C r.(?) p.(Asp356His) EGF-like 2 - PolyphenII: probably damaging, 1, HumVar probably damaging, 0.995; SIFT: Not tolerated, SIFT2 Not tolerated; MutationTaster: disease causing; conservation: 0.845 (Ch, Rh, D, P, B, M, H, Rb, Ck, Z, S) ACGS likely pathogenic g.11222195G>C g.11111519G>C D335H - LDLR_000158 - PubMed: Chmara 2010 - - Germline - 3/169 patients with LDLR mutation. 3/378 FH patients. Variant not present in Normal Non FH patients in this study; not in ExAC, May 2015 - - - Sarah Leigh
Legend   How to query