All variants in the LDLR gene

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

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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     
+?/+? 2 c.91G>A r.(?) p.(Glu31Lys) LDL-receptor class A1 - PolyphenII: probably damaging, 0.997, HumVar probably damaging, 0.945; SIFT: Tolerated, SIFT2 Not tolerated; MutationTaster: disease causing; conservation: 0.65 (Ch, Rh, D, B, M, Ra, H, Rb, X, S) ACGS likely pathogenic g.11210922G>A g.11100246G>A E10K - LDLR_000024 Authors report non-pathogenic prediction using Alamut software PubMed: Chmara 2010 - - Germline - 1/169 patients with LDLR mutation. 1/378 FH patients. Variant not present in Normal Non FH patients in this study. 0.000008259 ExAC, May 2015 - - - Sarah Leigh
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