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)     

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     
-?/-? 9 c.1301C>A r.(?) p.(Thr434Lys) LDL-receptor class B1 - PolyphenII: benign, 0.198, HumVar benign, 0.187; SIFT: Tolerated, SIFT2 Tolerated; MutationTaster: polymorphism, 0.552188; conservation: 0.514 (Ch, Rh, D, P, B, M, Ra, H,) ACGS likely benign g.11224068C>A g.11113392C>A T413K; FH Algeria-3 - LDLR_001392 - PubMed: Cenarro 1998 - - Germline - not in ExAC, May 2015 - - - Sarah Leigh
-?/-? 9 c.1301C>A r.(?) p.(Thr434Lys) LDL-receptor class B1 - PolyphenII: benign, 0.198, HumVar benign, 0.187; SIFT: Tolerated, SIFT2 Tolerated; MutationTaster: polymorphism, 0.552188; conservation: 0.514 (Ch, Rh, D, P, B, M, Ra, H,) ACGS likely benign g.11224068C>A g.11113392C>A T413K; FH Algeria-3 - LDLR_001392 Rare only one patient identified in NL PubMed: Fouchier 2001 - - Germline - not in ExAC, May 2015 - - - Sarah Leigh
-?/-? 9 c.1301C>A r.(?) p.(Thr434Lys) LDL-receptor class B1 5-15% LDLR activity when Htz with c.99delG, p.(Gln33Hisfs*173), FH Algeria-4 PolyphenII: benign, 0.198, HumVar benign, 0.187; SIFT: Tolerated, SIFT2 Tolerated; MutationTaster: polymorphism, 0.552188; conservation: 0.514 (Ch, Rh, D, P, B, M, Ra, H,) ACGS likely benign g.11224068C>A g.11113392C>A T413K; FH Algeria-3 - LDLR_001392 5-15% LDLR activity when Htz with FH Algeria-4 (Q33Hfs*173). Non-conservative amino acid substitution (polar to basic) causing a charge change at a buried site. PubMed: Hobbs 1992 - - Germline - not in ExAC, May 2015 - - - Sarah Leigh
+/. - c.1301C>A r.(?) p.(Thr434Lys) - - - - pathogenic g.11224068C>A g.11113392C>A LDLR(NM_000527.5):c.1301C>A (p.T434K) - LDLR_001392 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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