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Table 2 Summary of genes and their variants which are identified by TNGS

From: Heterozygous familial hypercholesterolaemia in a pair of identical twins: a case report and updated review

Gene dbSNP ID Chromosomal location Exon (intron) DNA Sequence Variant name
LDLR rs121908026 Chr19:11216112 Exon 4 Reference:
AGATGGCTCGGATGAGT
Variant:
AGATGGCTTGGATGAGT
Missense variant NM_000527.4:c.530C > T
p.Ser177Leu
LDLR rs2738442 Chr 19:11221454 Intron 7 Reference:
GTGATTTCCGGGTGGGAC
Variant:
GTGATTCCCGGGTGGGAC
Intronic variant
NM_000527.4: c.1060 + 7 T > C
ABCG8 rs11887534 Chr 2:44066247 Exon 1 Reference:
CTCCCCAGCATACCTCG
Variant:
CTCCCCAGGATACCTCG
missense variant
NM_022437.2:c.55G > C
p.Asp19His
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