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.9del r.(?) p.(Trp4Glyfs*202) - signal peptide - - - - <2% LDLR activity when Htz with unknown FH allele ACGS pathogenic g.11200233del g.11089557del c.9delC, P-19fsX202; FH Dallas-1 - LDLR_001899 predicted trucated protein; Produces 8.7kb mRNA; Reported as 7delC (old nomenclature) PubMed: Hobbs 1992 - - Germline - - - 0 - Sarah Leigh
+/+ 1 c.9del r.(?) p.(Trp4Glyfs*202) - signal peptide - - - - - ACGS pathogenic g.11200233del g.11089557del c.9delC, P-19fsX202; FH Dallas-1 - LDLR_001899 predicted trucated protein; Reported as 7delC (old nomenclature); Found as double mutant with: c.953G>T, p.C318F and also with c.1567G>A, p.V523M. PubMed: Mozas 2004 - - Germline - - - 0 - Sarah Leigh
+/+ 1 c.9del r.(?) p.(Trp4Glyfs*202) - signal peptide - - - - - ACGS pathogenic g.11200233del g.11089557del c.9delC, P-19fsX203; FH Dallas-1 - LDLR_001899 predicted trucated protein; 1bp deletion (C in a run of 3 Cs) PubMed: Mozas 2004 - - Germline - - - 0 - Sarah Leigh
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