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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