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.6del r.(?) p.(Trp4Glyfs*202) - signal peptide - - - - - ACGS pathogenic g.11200230del g.11089554del c.6delG, G-20fsX214 - LDLR_001825 predicted no LDLR protein; In paper given as 3delG, listed here as 6delG because this is the most 3' of a run of 6Gs PubMed: Day 1997 - - Germline - - - 0 - Sarah Leigh
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