All variants in the LDLR gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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     
+?/+? 1 c.-120C>T p.(=) r.(=) Hobb’s -27C>T - TATA box/SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 3% of WT promoter activity (luciferase assay) ACGS likely pathogenic g.11200105C>T g.11089429C>T - - LDLR_001115 predicted reduced transcription; co-segregated with FH in 3 siblings, father not available on not present in mother; Not present in 50 normal controls PubMed: Francova 2004 - - Germline - - - 0 - Sarah Leigh
+?/+? 1 c.-120C>T p.(=) r.(=) Hobb’s -27C>T - TATA box/SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 3% of WT promoter activity (luciferase assay) ACGS likely pathogenic g.11200105C>T g.11089429C>T - - LDLR_001115 predicted reduced transcription; co-segregated with FH in 3 siblings, father not available on not present in mother; Not present in 50 normal controls PubMed: Francova 2004 - - Germline - - - 0 - Sarah Leigh
+?/+? 1 c.-120C>T p.(=) r.(=) Hobb’s -27C>T - TATA box/SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 3% of WT promoter activity (luciferase assay) ACGS likely pathogenic g.11200105C>T g.11089429C>T - - LDLR_001115 predicted reduced transcription; co-segregated with FH in 3 siblings, father not available on not present in mother; Not present in 50 normal controls PubMed: Francova 2004 - - Germline - - - 0 - Sarah Leigh
+?/+? 1 c.-120C>T p.(=) r.(=) Hobb’s -27C>T - TATA box/SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 3% of WT promoter activity (luciferase assay) ACGS likely pathogenic g.11200105C>T g.11089429C>T - - LDLR_001115 prediction reduced transcription PubMed: Alonso 2009 - - Germline - - - 0 - Sarah Leigh
+?/. - c.-120C>T p.(=) r.(?) - - - - - - - - - likely pathogenic g.11200105C>T g.11089429C>T LDLR(NM_000527.4):c.-120C>T - LDLR_001115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
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