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_2i c.-1823_190+566del r.(?) p.0? - Promoter - exon 2 - - - - - ACGS pathogenic g.11198402_11211587del g.11087726_11100911del - - LDLR_000005 predicted no protein; Deletion of exons 1 & 2; May be the same as c.1-?_190+?del PubMed: Goldmann 2010 - - Germline - 1/37 patients with LDLR mutation. 1/1945 FH patients. Variant not present in controls - 0 - Sarah Leigh
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