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Table 2 Variants of definite and possible importance found in suspected FH patient cohort of Latvian population

From: Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL–C levels in a latvian population

CAT Gene rs code AAF FRQ Variants Description with references
1 APOB rs5742904 T = 0,016 T = 0,001 p.(Arg3527Gln) Hypercholesterolemia [18, 40, 41, 44, 49, 50, 52], associated with increased LDL-C [51]
1 LDLR rs147509697 A = 0,011 A = 0,001 p.(Gly20Arg) Hypercholesterolaemia, possibly damaging [38], found in FH patient [3943], used in LIPOCHIP – FH diagnosis panel [44]
1 LDLR   T = 0,005   p.(Arg350*) Hypercholesterolaemia, truncated peptide [13, 36, 37, 50]
1 LDLR rs17248882 A = 0,005 A = 0.002 c.1706-10G > A Hypercholesterolaemia? [45, 47], 3’splice acceptor mutation in intron 11 [46, 48], computed estimation – outside splicing regulatory regions [38], found in seven FH patients [40, 49]
2 APOB rs201990496 C = 0,005 A = 0.000 p.(Ser3915Cys) No information found
2 APOB rs151009667 T = 0,011 T = 0.002 p.(Arg1689His) Hypertriglyceridaemia?[53]
2 APOB   G = 0,005   p.(Tyr144His) No information found
3 APOB rs72654423 C = 0,005 C = 0.003 p.(Ile4314Val) Found in individuals with high TG levels [63]
3 APOB rs61743502 G = 0,005 G = 0.003 p.(Val4265Ala) No information found
3 APOB rs1801696 T = 0,016 T = 0.002 p.(Glu2566Lys) Hypertriglyceridaemia?[53]
3 APOB rs72653092 T = 0,011 T = 0.001 p.(Ser2429Thr) Hypertriglyceridaemia?[53]
3 APOB   T = 0,005   p.(Val2095Glu) No information found
3 APOB   A = 0,005   p.(Met755Leu) No information found
3 APOB rs146152405 A = 0,005 T = 0.001 p.(Arg214Leu) No information found
3 LDLR   G = 0,005   c.2141-9 T > G No information found
  1. CAT – our designated category of variant; AAF – alternative allele frequency in our cohort; FRQ – frequency of general population (http://www.ncbi.nlm.nih.gov/); Variant – amino acid exchange (amino acid numbering according to Human Genome Variation Society [64])