All variants in the LDLR gene

Information The variants shown are described using the NM_000527.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
-?/-? 4 c.367T>C p.(Ser123Pro) r.(?) S102P polymorphism LDL-receptor class A3 PPII HumDiv benign, 0.017; HumVar benign, 0.101 Tolerated; SIFT2 Not tolerated 0.616; (Ch, M, Ra, H, Rb, Ck, X, S) SplicePort 98 (exon 4A), 100 (exon 4D); NNSSP 100 (exon 4A), 100 (exon 4D) 32% LDLR activity when Htz with c.1478_1479delCT (FH Frosinone-2) ACGS likely benign g.11215949T>C g.11105273T>C - - LDLR_001226 Found as compound Htz with FH Frosinone-2 (c.1478_1479delCT, p.(Ser493Cysfs*42)), segregates with FH and results in 32% LDLR activity when Htz with c.1478_1479delCT, p.(Ser493Cysf*42). Not present on 150 normal chromosomes. Uncharged-polar>Non-polar PubMed: Romano 2010 - - Germline - 0.02 in this study. not in ExAC, May 2015 - 0 - Sarah Leigh
+/. - c.367T>C p.(Ser123Pro) r.(?) - - - - - - - - - pathogenic g.11215949T>C g.11105273T>C LDLR(NM_000527.4):c.367T>C (p.S123P) - LDLR_001226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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