All variants in the LDLR gene

Information The variants shown are described using the NM_000527.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

RNA change     

DNA/Legacy     

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     
-?/-? 15 c.2242G>A p.(Asp748Asn) r.(?) D727N polymorphism clustered O-linked oligosaccharides PPII HumDiv benign, 0; HumVar benign, 0 Tolerated; SIFT2 Tolerated 0.262; (0/13) - - ACGS likely benign g.11233951G>A g.11123275G>A - - LDLR_000290 - PubMed: Usifo 2012 - rs150104358 Germline - 0.0001155 ExAC, May 2015 - 0 - Sarah Leigh
-?/. - c.2242G>A p.(Asp748Asn) r.(?) - - - - - - - - - likely benign g.11233951G>A g.11123275G>A LDLR(NM_000527.4):c.2242G>A (p.D748N) - LDLR_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
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