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     

P-domain     

Enzyme activity     

Predict-BioInf     

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     
+?/+? 9i c.1358+3_1358+8del r.(?) p.? Intron 9 - MutationTaster: disease causing ACGS likely pathogenic g.11224128_11224133del g.11113452_11113457del - - LDLR_001404 prediction likely to affect splicing PubMed: Marduel 2010 - - Germline - not in ExAC, September 2015 - - - Sarah Leigh
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