Skip to main content

Table 2 Frequent variants used for haplotyping

From: LDLR gene rearrangements in Czech FH patients likely arise from one mutational event

Variant a

Protein change

Frequency (gnomAD) b

Location

c.81C>T

p.Cys27Cys

0.1232

exon 2

c.190+56G>A

-

0.06341

intron 2

c.1706-55A>C

-

0.5890

intron 11

c.1725C>T

p.Leu575Leu

0.1309

exon 12

c.1773C>T

p.Asn591Asn

0.4461

exon 12

c.2232A>G

p.Arg744Arg

0.7534

exon 15

c.2548-42A>G

-

0.4876

intron 17

  1. A list of all variants used in haplotype analysis. Not all variants were used for haplotyping all rearrangements
  2. aDescription of variants is based on the reference sequence NG_009060.1(NM_000527.4)
  3. bPopulation frequency of the variant in the European non-Finnish population according to the gnomAD database v4.0.0
Back to article page

Lipids in Health and Disease

ISSN: 1476-511X