All variants in the LDLR gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
-?/-? 12 c.1837G>A p.(Val613Ile) r.(?) V592I disease causing LDL-receptor class B5 PPII HumDiv benign, 0; HumVar benign, 0.003 Tolerated; SIFT2 Tolerated 0.791; (Ch, Rh, Ck,Z) - - ACGS likely benign g.11227666G>A g.11116990G>A - - LDLR_000250 12 carriers known in NL. Conservative amino acid substitution (both non-polar). PubMed: Fouchier 2005 - rs148181903 Germline - 0.00001648 ExAC, May 2015 - 0 - Sarah Leigh
-?/- 12 c.1837G>A p.(Val613Ile) r.(?) V592I disease causing LDL-receptor class B5 PPII HumDiv benign, 0; HumVar benign, 0.003 Tolerated; SIFT2 Tolerated 0.791; (Ch, Ck, Z) - - ACGS likely benign g.11227666G>A g.11116990G>A - - LDLR_000250 - PubMed: Whittall 2010 - rs148181903 Germline - 0.00001648 ExAC, May 2015 - 0 - Sarah Leigh
?/. - c.1837G>A p.(Val613Ile) r.(?) - - - - - - - - - VUS g.11227666G>A g.11116990G>A LDLR(NM_000527.4):c.1837G>A (p.V613I) - LDLR_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1837G>A p.(Val613Ile) r.(?) - - - - - - - - - likely benign g.11227666G>A g.11116990G>A LDLR(NM_000527.4):c.1837G>A (p.V613I) - LDLR_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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