All variants in the LDLR gene

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

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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.-22del r.(=) p.(=) - 5'UTR - - 10/12 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - not tested ACGS VUS g.11200203del g.11089527del c.-22delC - LDLR_001139 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: Sozen 2005 - - Germline - - - 0 - Sarah Leigh
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