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_1i c.-1818_67+1091delinsTTC r.0? p.0? - - - - - - - - pathogenic (dominant) g.11198407_11201382delinsTTC g.11087731_11090706delinsTTC 11198406_11201384del, insTTCG - LDLR_002172 2977 del exon 1 PubMed: Wong 2019, Journal: Wong 2019 - - Germline yes - - 0 - Karen HY Wong
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