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     

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     
+?/+? 3 c.284G>A r.(?) p.(Cys95Tyr) LDL-receptor class A2 - PolyphenII: probably damaging, 1, HumVar probably damaging, 1; SIFT: Not tolerated, SIFT2 Not tolerated; MutationTaster: disease causing; conservation: 1 (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) ACGS likely pathogenic g.11213433G>A g.11102757G>A C74Y - LDLR_001679 - PubMed: Alonso 2009 - - Germline - not in ExAC, May 2015 - - - Sarah Leigh
+?/+? 3 c.284G>A r.(?) p.(Cys95Tyr) LDL-receptor class A2 - PolyphenII: probably damaging, 1, HumVar probably damaging, 1; SIFT: Not tolerated, SIFT2 Not tolerated; MutationTaster: disease causing; conservation: 1 (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) ACGS likely pathogenic g.11213433G>A g.11102757G>A C74Y - LDLR_001679 - PubMed: Bertolini 2013 - - Germline - not in ExAC, May 2015 - - - Sarah Leigh
?/. 3 c.284G>A r.(?) p.(Cys95Tyr) - - - ACMG VUS g.11213433G>A g.11102757G>A - - LDLR_001679 - Journal: Banares 2017 - - Germline - 1/33 cases - - - Virginia Bañares
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