All variants in the LDLR gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.-137C>T r.(=) p.(=) - SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - 5-15% LDLR activity when Htz with c.1222G>A, p.(Glu408Lys), FH Algeria-1, FH Osaka ACGS VUS g.11200088C>T g.11089412C>T FH Albuquerque - LDLR_001262 Hobb's numbering: -44C>T. Found as compound Htz with c.1222G>A, p.(Glu408Lys) (FH-Algeria-1)(likely pathogenic). PubMed: Dedoussis 2003 - - Germline - - - 0 - Sarah Leigh
?/? 1 c.-137C>T r.(=) p.(=) - SP1 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - Not tested ACGS VUS g.11200088C>T g.11089412C>T FH Albuquerque - LDLR_001262 Hobb's numbering: -44C>T. Found as compound Htz with c.2054C>T, p.(Pro685Leu)(likely pathogenic). PubMed: Mak 1998 - - Germline - - - 0 - Sarah Leigh
+/. - c.-137C>T r.(?) p.(=) - - - - - - - - pathogenic g.11200088C>T g.11089412C>T LDLR(NM_000527.4):c.-137C>T - LDLR_001262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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