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)     

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.41dup r.(?) p.(Leu14Phefs*38) - signal peptide - - - - - ACGS pathogenic g.11200265dup g.11089589dup c.41_42insT, L-8FfsX38 - LDLR_001132 prediction truncated protein PubMed: Sozen 2005 - - Germline - - - 0 - Sarah Leigh
+/. - c.41dup r.(?) p.(Leu14PhefsTer38) - - - - - - - - pathogenic g.11200265dup g.11089589dup LDLR(NM_000527.4):c.41dupT (p.L14Ffs*38) - LDLR_001132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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