All variants in the LDLR gene

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

6 entries on 1 page. Showing entries 1 - 6.
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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.-136C>T r.(=) p.(=) - SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 50% reduction of binding, internalization & degradation of labeled LDL in Htz fibroblasts compared with wt. Reduced mRNA levels; SP1 binding inhibited ACGS likely pathogenic g.11200089C>T g.11089413C>T Hobb’s -43C>T - LDLR_001261 predicted reduced transcription; co-segregated with the FH phenotype in six available family members; Abolished binding of Spi transcription factor to this site. PubMed: Koivisto 1994 - - Germline - - - 0 - Sarah Leigh
+?/+? 1 c.-136C>T r.(=) p.(=) - SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - - ACGS likely pathogenic g.11200089C>T g.11089413C>T Hobb’s -43C>T - LDLR_001261 prediction reduced transcription PubMed: Kim 2004 - - Germline - - - 0 - Sarah Leigh
+?/+? 1 c.-136C>T r.(=) p.(=) - SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - - ACGS likely pathogenic g.11200089C>T g.11089413C>T Hobb’s -43C>T - LDLR_001261 prediction reduced transcription PubMed: Leren 2004 - - Germline - - - 0 - Sarah Leigh
+?/+? 1 c.-136C>T r.(=) p.(=) - SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - - ACGS likely pathogenic g.11200089C>T g.11089413C>T Hobb’s -43C>T - LDLR_001261 prediction reduced transcription PubMed: Fouchier 2005 - - Germline - - - 0 - Sarah Leigh
+?/+? 1 c.-136C>T r.(=) p.(=) - SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - Transcription level of variant reduced to <5% of wt ACGS likely pathogenic g.11200089C>T g.11089413C>T Hobb’s -43C>T - LDLR_001261 prediction reduced transcription PubMed: Jensen 1996 - - Germline - - - 0 - Sarah Leigh
+/. - c.-136C>T r.(?) p.(=) - - - - - - - - pathogenic g.11200089C>T g.11089413C>T LDLR(NM_000527.4):c.-136C>T - LDLR_001261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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