PMID: 34650182

FH ALERT: efficacy of a novel approach to identify patients with familial hypercholesterolemia.

Scientific reports
Fath, Felix F, Bengeser, Andreas A, Barresi, Mathias M, Binner, Priska P, Schwab, Stefanie S, Ray, Kausik K KK, Krämer, Bernhard K BK, Fraass, Uwe U, März, Winfried W
2021-10-14

24 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-44099233-G-A ABCG8 c.1083G>A p.W361* Nonsense 7/13 -
2-44079755-G-A ABCG8 c.712G>A p.E238K Missense 6/13 -
19-45411110-T-C APOE c.137T>C p.L46P Missense 3/4 -
19-11217344-T-A LDLR c.798T>A p.D266E Missense 5/18 -
1-55523855-G-A PCSK9 c.1327G>A p.A443T Missense 8/12 -
2-21233098-CTCA-C APOB c.6639_6641delTGA p.D2213del InFrameDeletion 26/29 -
19-11200259-TCGC-T LDLR c.37_39delGCC p.A13del InFrameDeletion 1/18 -
7-44578500-G-A NPC1L1 c.1496C>T p.T499M Missense 2/19 -
1-241682940-AA-GG FH c.82_83delTTinsCC p.L28P Missense 1/10 -
19-11200261-GCC-AGGGGTCTTGAG LDLR c.37_39delinsAGGGGTCTTGAG p.A13delinsRGLE MultiAAMissense 1/18 -
7-44579184-GC-AA NPC1L1 c.811_812delGCinsTT p.A271F Missense 2/19 -
2-21245889-G-A APOB c.2630C>T p.P877L Missense 18/29 -
2-21238259-C-G APOB c.3491G>C p.R1164T Missense 22/29 -
2-219679651-G-C CYP27A1 c.1494G>C p.K498N Missense 9/9 -
7-44579548-G-A NPC1L1 c.448C>T p.L150F Missense 2/19 -
2-44058978-A-G ABCG5 c.431T>C p.V144A Missense 4/13 -
7-44578669-C-T NPC1L1 c.1327G>A p.E443K Missense 2/19 -
2-44104775-G-A ABCG8 c.1832G>A p.R611K Missense 12/13 -
1-109940472-G-A SORT1 c.43C>T p.P15S Missense 1/20 -
2-21238413-C-G APOB c.3337G>C p.D1113H Missense 22/29 -
7-44579467-C-T NPC1L1 c.529G>A p.V177I Missense 2/19 -
7-44579335-G-A NPC1L1 c.661C>T p.H221Y Missense 2/19 -
2-44040382-T-G ABCG5 c.1829A>C p.E610A Missense 13/13 -
2-21230498-C-T APOB c.9242G>A p.S3081N Missense 26/29 -