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.
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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.1066G>T p.(Asp356Tyr) r.(?) D335Y disease causing EGF-like 2 PPII HumDiv probably damaging, 1; HumVar probably damaging, 0.999 Not tolerated; SIFT2 Not tolerated 0.845; (Ch, Rh, D, P, B, M, Ra, H, Ck, Z, S) - - ACGS likely pathogenic g.11222195G>T g.11111519G>T - - LDLR_000523 - PubMed: van Gaal 2001 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
+?/+? 8 c.1066G>T p.(Asp356Tyr) r.(?) D335Y disease causing EGF-like 2 PPII HumDiv probably damaging, 1; HumVar probably damaging, 0.999 Not tolerated; SIFT2 Not tolerated 0.845; (Ch, Rh, D, P, B, M, Ra, H, Ck, Z, S) - - ACGS likely pathogenic g.11222195G>T g.11111519G>T - - LDLR_000523 - PubMed: Fouchier 2005 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
+?/+? 8 c.1066G>T p.(Asp356Tyr) r.(?) D335Y disease causing EGF-like 2 PPII HumDiv probably damaging, 1; HumVar probably damaging, 0.999 Not tolerated; SIFT2 Not tolerated 0.845; (Ch, Rh, D, P, B, M, Ra, H, Ck, Z, S) - - ACGS likely pathogenic g.11222195G>T g.11111519G>T - - LDLR_000523 - PubMed: Leren 1997 - - Germline - not in ExAC, May 2015 - 0 - Sarah Leigh
+/. - c.1066G>T p.(Asp356Tyr) r.(?) - - - - - - - - - pathogenic g.11222195G>T g.11111519G>T LDLR(NM_000527.4):c.1066G>T (p.D356Y) - LDLR_000523 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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