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_18_ c.(?_-187)_(*2584_?)del r.(?) p.0? - whole gene - - - - - ACGS pathogenic g.11200038_11244576del g.11089362_11133900del c.-187-?_*2584del - LDLR_000010 predicted no protein; deletion of whole gene; found in 1 proband, segregates with FH in 2 affected relatives and not in 2 unaffected relatives PubMed: Marduel 2010 - - Germline - - - 0 - Sarah Leigh
+/+ _1_18_ c.(?_-187)_(*2584_?)del r.(?) p.0? - whole gene - - - - - ACGS pathogenic g.11200038_11244577del g.11089362_11133901del c.-187-?_*2584del - LDLR_000010 predicted no protein; deletion of whole gene PubMed: Usifo 2012 - - Germline - - - 0 - Sarah Leigh
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