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)     

Protein     

RNA change     

DNA/Legacy     

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     
+?/+? 6 c.905G>A p.(Cys302Tyr) r.(?) C281Y disease causing LDL-receptor class A7 PPII HumDiv probably damaging, 1; HumVar probably damaging, 1 Not tolerated; SIFT2 Not tolerated 0.642; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS likely pathogenic g.11218155G>A g.11107479G>A - - LDLR_000455 Allelic with c.1706-10G>A, which is unlikely to affect normal splicing. PubMed: Cenarro 1998 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
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