All variants in the LDLR gene

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

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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_8i c.(?_-187)_(1186+1_1187-1)del r.(?) p.0? - Promoter - exon 8 - - - - - ACGS pathogenic g.11200038_11222316del - c.-187-?_1186+?del - LDLR_001091 predicted no protein; 23kb deletion of promotor and exons 1-8 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Fouchier 2005 - - Germline - - - 0 - Sarah Leigh
Legend   How to query