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     

P-domain     

Enzyme activity     

Predict-BioInf     

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     
+?/+? 4 c.491T>C r.(?) p.(Leu164Pro) LDL-receptor class A4 - PolyphenII: probably damaging, 0.998, HumVar probably damaging, 0.995; SIFT: Tolerated, SIFT2 Not tolerated; MutationTaster: disease causing; conservation: 0.527 (Ch, Rh, D, P, B, M, Ra, H, Rb, X, Z, S) ACGS likely pathogenic g.11216073T>C g.11105397T>C L143P - LDLR_001136 - PubMed: Sozen 2005 - - Germline - not in ExAC, May 2015 - - - Sarah Leigh
+/. - c.491T>C r.(?) p.(Leu164Pro) - - - - pathogenic g.11216073T>C g.11105397T>C LDLR(NM_000527.5):c.491T>C (p.L164P) - LDLR_001136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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