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)     

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.-135C>G r.(=) p.(=) - SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 5-15% LDLR activity in Hmz. 11% trascriptional activity (luciferase assay){PMID21538688: De Castro-Oros 2011} ACGS likely pathogenic g.11200090C>G g.11089414C>G Hobb’s -42C>T; FH Columbia-2 - LDLR_000003 prediction reduced transcription PubMed: Hobbs 1992 - - Germline - - - 0 - Sarah Leigh
+?/+? 1 c.-135C>G r.(=) p.(=) - SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 11% of wt trascriptional activity (luciferase assay){PMID21538688: De Castro-Oros et al, Hum Mutat. 2011 Aug;32(8):868-72} ACGS likely pathogenic g.11200090C>G g.11089414C>G Hobb’s -42C>T; FH Columbia-2 - LDLR_000003 prediction reduced transcription PubMed: Mozas 2004 - - Germline - - - 0 - Sarah Leigh
+?/+ 1 c.-135C>G r.(=) p.(0) - SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 11% of wt trascriptional activity (luciferase assay){PMID21538688: De Castro-Oros et al, Hum Mutat. 2011 Aug;32(8):868-72} ACGS likely pathogenic g.11200090C>G g.11089414C>G Hobb’s -42C>T; FH Columbia-2 - LDLR_000003 predicted reduced transcription; On the same allele as c.1185G>C, p.(Val395Val) PubMed: Bourbon 2009 - - Germline - - - 0 - Sarah Leigh
+?/? 1 c.-135C>G r.(=) p.(=) - SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 11% of wt trascriptional activity (luciferase assay){PMID21538688: De Castro-Oros et al, Hum Mutat. 2011 Aug;32(8):868-72} ACGS likely pathogenic g.11200090C>G g.11089414C>G Hobb’s -42C>T; FH Columbia-2 - LDLR_000003 prediction reduced transcription PubMed: Medeiros 2010 - - Germline - - - 0 - Sarah Leigh
+/. - c.-135C>G r.(?) p.(=) - - - - - - - - pathogenic g.11200090C>G g.11089414C>G LDLR(NM_000527.4):c.-135C>G - LDLR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
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