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.(?_-187)_(67+1_68-1)dup r.(?) p.0? - Promotor - exon 1 - - - - - ACGS likely pathogenic g.11200038_11200292dup - c.-187-?_67+?dup - LDLR_001273 predicted no protein; Duplication of promotor & exon 1 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Sharifi 2016 - - Germline - NA - 0 - Sarah Leigh
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