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)     

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.-139C>G r.(=) p.(=) - SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 26% of wt using luciferase assay ACGS likely pathogenic g.11200086C>G g.11089410C>G - - LDLR_001190 predicted reduced transcription; Proband compound Htz with c.762_763inv, p.(Q254_C255delinsHG), inherited from mother & c.-22delC from father; Not found in 50 normals; Creates new initiation site, which could result in an novel peptide of 35aa. PubMed: Smith 2007 - - Germline - - - 0 - Sarah Leigh
+/. - c.-139C>G r.(?) p.(=) - - - - - - - - pathogenic g.11200086C>G g.11089410C>G LDLR(NM_000527.4):c.-139C>G - LDLR_001190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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