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     
+?/+? 8 c.1136G>A p.(Cys379Tyr) r.(?) C358Y disease causing EGF-like 2 PPII HumDiv probably damaging, 1; HumVar probably damaging, 1 Not tolerated; SIFT2 Not tolerated 1; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS likely pathogenic g.11222265G>A g.11111589G>A - - LDLR_000364 - PubMed: Chaves 2001 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
+?/+? 8 c.1136G>A p.(Cys379Tyr) r.(?) C358Y disease causing EGF-like 2 PPII HumDiv probably damaging, 1; HumVar probably damaging, 1 Not tolerated; SIFT2 Not tolerated 1; (Ch, Rh, D, P, B, M, Ra, H, Rb, Ck, X, Z, S) - - ACGS likely pathogenic g.11222265G>A g.11111589G>A - - LDLR_000364 - PubMed: Hirayama 1998 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
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