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_2i c.[(?_-187)_(190+1_191-1)del;(1060+1_1061-1)_(1845+1_1846-1)del] r.(?) p.0? - Promoter - exon 2 & exons 8-12 - - - - - ACGS pathogenic g.[11200038_11211021del;11222190_11227674del] - c.[-187-?_190+?del;1061-?_1845+?del] - LDLR_000000 predicted no protein; Deletion of promoter, exons 1 & 2 allelic with deletion of exons 8-12; Found in 8 relatives of the proband PubMed: Bourbon 2008 - - Germline - - - 0 - Sarah Leigh
+/+ _1_2i c.[(?_-187)_(190+1_191-1)del;(1060+1_1061-1)_(1845+1_1846-1)del] r.(?) p.0? - Promoter - exon 2 & exons 8-12 - - - - - ACGS pathogenic g.[11200038_11211021del;11222190_11227674del] - c.[-187-?_190+?del;1061-?_1845+?del] - LDLR_000000 predicted no protein; Deletion of exons 1 & 2 and exons 8-12; Found in 2 probands but may be different deletions in each. PubMed: Marduel 2010 - - Germline - - - 0 - Sarah Leigh
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