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.47T>C r.(?) p.(Leu16Pro) disease causing signal peptide PPII HumDiv possibly damaging, 0.940; HumVar possibly damaging, 0.713 Tolerated; SIFT2 Not tolerated 0.152; (Ch, Rh, D, M, Ra, H, Z) - - ACGS likely pathogenic g.11200271T>C g.11089595T>C L-6P - LDLR_001743 - PubMed: Alonso 2009 - - Germline - not in ExAC, August 2015 - 0 - Sarah Leigh
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