PMID: 32015373

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific reports
U Galicia-Garcia, A Benito-Vicente, KB Uribe, S Jebari, A Larrea-Sebal, R Alonso-Estrada, J Aguilo-Arce, H Ostolaza, L Palacios, C Martin
2020-02-03

17 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11224326-G-A LDLR c.1474G>A p.Asp492Asn Missense 10/18 -
19-11222262-A-C LDLR c.1133A>C p.Gln378Pro Missense 8/18 -
19-11230819-C-T LDLR c.1897C>T p.Arg633Cys Missense 13/18 -
19-11222232-G-A LDLR c.1103G>A p.Cys368Tyr Missense 8/18 -
19-11231151-G-A LDLR c.2093G>A p.Cys698Tyr Missense 14/18 -
19-11224005-C-T LDLR c.1238C>T p.Thr413Met Missense 9/18 -
19-11223962-G-A LDLR c.1195G>A p.Ala399Thr Missense 9/18 -
19-11227579-T-C LDLR c.1750T>C p.Ser584Pro Missense 12/18 -
19-11230888-C-A LDLR c.1966C>A p.His656Asn Missense 13/18 -
19-11230898-C-A LDLR c.1976C>A p.Thr659Asn Missense 13/18 -
19-11231177-G-T LDLR c.2119G>T p.Asp707Tyr Missense 14/18 -
19-11227645-G-T LDLR c.1816G>T p.Ala606Ser Missense 12/18 -
19-11230787-A-G LDLR c.1865A>G p.Asp622Gly Missense 13/18 -
19-11221400-G-T LDLR c.1013G>T p.Cys338Phe Missense 7/18 -
19-11231157-A-G LDLR c.2099A>G p.Asp700Gly Missense 14/18 -
19-11224013-C-T LDLR c.1246C>T p.Arg416Trp Missense 9/18 -
19-11221364-C-G LDLR c.977C>G p.Ser326Cys Missense 7/18 -