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     

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 c.28T>C r.(?) p.(Trp10Arg) polymorphism signal peptide PPII HumDiv possibly damaging, 0.836; HumVar possibly damaging, 0.549 Not tolerated; SIFT2 Not tolerated 0.114; (Ch, Rh, B, M, Ra, H, Ck) - reduced LDLR activity ACGS likely pathogenic g.11200252T>C g.11089576T>C W-12R - LDLR_000260 predicted likely to impair co-translational translocation of the nascent receptor I protein across the endoplasmic reticulum membrane (infered from in vitro evidence from c.28T>A); Non-polar>Charged(+)-polar PubMed: Fouchier 2005 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
+?/. - c.28T>C r.(?) p.(Trp10Arg) - - - - - - - - likely pathogenic g.11200252T>C g.11089576T>C LDLR(NM_000527.4):c.28T>C (p.W10R) - LDLR_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.28T>C r.(?) p.(Trp10Arg) - - - - - - - - pathogenic g.11200252T>C g.11089576T>C LDLR(NM_000527.4):c.28T>C (p.W10R) - LDLR_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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