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)     

Protein     

RNA change     

DNA/Legacy     

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     
+?/+? 3 c.292G>A p.(Gly98Ser) r.(?) G77S disease causing, 0.660402 LDL-receptor class A2 PPII HumDiv probably damaging, 0.986; HumVar probably damaging, 0.947 Tolerated; SIFT2 Not tolerated 0.871; (Ch, Rh, D, P, B, M, H, Rb, Ck, Z) - - ACGS likely pathogenic g.11213441G>A g.11102765G>A - - LDLR_001032 - PubMed: Fouchier 2005 - - Germline - 0.00005766 ExAC, May 2015 - 0 - Sarah Leigh
?/. - c.292G>A p.(Gly98Ser) r.(?) - - - - - - - - - VUS g.11213441G>A g.11102765G>A LDLR(NM_000527.4):c.292G>A (p.G98S) - LDLR_001032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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