All variants in the LDLR gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.-217C>T r.(=) p.? - FP1 cis acting regulatory element - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 160% luciferase activity compared to wt {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} ACGS likely benign g.11200008C>T g.11089332C>T - - LDLR_000015 predicted enhanced transcription; Hobb's numbering -124; Within 2bp of cis-acting regulatory element FP1; Found with c.-149C>T (Hobb's numbering -59) in normal son of proband for c.-149C>T PubMed: Scholtz 1999 - - Germline - - - 0 - Sarah Leigh
-?/? _1 c.-217C>T r.(=) p.? - FP1 cis acting regulatory element - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 160% luciferase activity compared to wt {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} ACGS likely benign g.11200008C>T g.11089332C>T IVS1-217C>T - LDLR_000015 predicted enhanced transcription; Hobb's numbering -124; Within 2bp of cis-acting regulatory element FP1; Found on same allele as c.2041T>G, p.(Cys681Gly); increased expression of this pathogenic variant under the influence of c.-217C>T may explain the Hmz phenotype of this patient. PubMed: Snozek 2009 - - Germline - - - 0 - Sarah Leigh
-?/. - c.-217C>T r.(?) p.(=) - - - - - - - - likely benign g.11200008C>T - LDLR(NM_000527.4):c.-217C>T - LDLR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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