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     
+/+ 4i c.694+2T>C p.(Ala232fs*27) r.spl - - Intron 4 - - - - - ACGS pathogenic g.11216278T>C g.11105602T>C - - LDLR_000500 predicted truncated non-functioning 285aa protein; Considered to be a common Icelandic founder variant for FH; cDNA sequencing shows disruption of normal splicing and read through into the intron, predicted to cause premature truncation at aa 258 PubMed: Gudnason 1997 - rs200238879 Germline - Found in 10/18 FH families in this study. not in ExAC, June 2015 - 0 - Sarah Leigh
+/. - c.694+2T>C p.? r.spl? - - - - - - - - - pathogenic g.11216278T>C g.11105602T>C LDLR(NM_000527.4):c.694+2T>C - LDLR_000500 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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