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_6i c.(?_-187)_(940+1_941-1)del r.(?) p.0? - Promoter - exon 6 - - - - - ACGS pathogenic g.11200038_11218191del - c.-187-?_940+?del, FH Bologna-1 - LDLR_001274 predicted no protein; >10kb deletion of promotor & exons 1-6 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Sun 1992 - - Germline - - - 0 - Sarah Leigh
+/+ _1_6i c.(?_-187)_(940+1_941-1)del r.(?) p.0? - Promoter - exon 6 - - - - - ACGS pathogenic g.11200038_11218191del - c.-187-?_940+?del, FH Bari-3 - LDLR_001274 predicted no protein; 24kb deletion the promotor - exon 6 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Bertolini 2000 - - Germline - - - 0 - Sarah Leigh
+/+ _1_6i c.(?_-187)_(940+1_941-1)del r.(?) p.0? - Promoter - exon 6 - - - - 40-50% LDLR activity in Htz ACGS pathogenic g.11200038_11218191del - c.-187-?_940+?del, FH Bologna-1 - LDLR_001274 predicted no protein; >25kb deletion of promotor & exons 1-6 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Lelli 1991 - - Germline - - - 0 - Sarah Leigh
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