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     

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.44T>A r.(?) p.(Leu15His) disease causing signal peptide PPII HumDiv probably damaging 0.992; HumVar possibly damaging, 0.770 Not tolerated; SIFT2 Not tolerated 0.174; (Ch, Rh, B, M, Ra, H, Rb, X, S) - - ACGS likely pathogenic g.11200268T>A g.11089592T>A L-7P - LDLR_001736 - PubMed: Leren 2004 - - Germline - not in ExAC, March 2016 - 0 - Sarah Leigh
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