All variants in the LDLR gene

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

4 entries on 1 page. Showing entries 1 - 4.
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_2i c.(?_-187)_(190+1_191-1)del r.(?) p.0? - Promotor - exon 2 - - - - - ACGS pathogenic g.11200038_11211022del - c.-187-?_190+?del - LDLR_000008 predicted no protein; Deletion of exons 1 & 2 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Chmara 2010 - - Germline - 4/169 patients with LDLR mutation. 4/378 FH patients. Variant not present in Normal Non FH patients - 0 - Sarah Leigh
+/+ _1_2i c.(?_-187)_(190+1_191-1)del r.(?) p.0? - Promotor - exon 2 - - - - - ACGS pathogenic g.11200038_11211022del - c.-187-?_190+?del - LDLR_000008 predicted no protein; 18kb deletion of promotor - exon 2; Similar to FH Siracusa (20kb deletion of promotor - exon 2) Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Chaves 2001 - - Germline - - - 0 - Sarah Leigh
+/+ _1_2i c.(?_-187)_(190+1_191-1)del r.(?) p.0? - Promotor - exon 2 - - - - - ACGS pathogenic g.11200038_11211022del - c.-187-?_190+?del - LDLR_000008 predicted no protein; Deletion of exons 1-2; No details given of size could be the same as other deletions. Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Koeijvoets 2005 - - Germline - - - 0 - Sarah Leigh
+/+ _1_2i c.(?_-187)_(190+1_191-1)del r.(?) p.0? - Promotor - exon 2 - - - - 45% LDLR activity in Htz fibroblasts ACGS pathogenic g.11200038_11211022del - c.-187-?_190+?del - LDLR_000008 predicted no protein; 20kb deletion of promotor and exons 1-2; Similar to FH Valencia-1 (18kb deletion of prom-exon2) Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Garuti 1996 - - Germline - - - 0 - Sarah Leigh
Legend   How to query