Table 3 Identification of heterozygotes and homozygotes with the additional c.613–31A>G (IVS10–31A>G) variant among 273 probands tested for HMBS variants

From: International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

 

HMBS varianta

c.613–31A>G (IVS10–31A>G)

Africans

Hispanics

Caucasians

  

zygosity

N

%

N

%

N

%

With a pathogenic

 

8

Heterozygotes

5

62

3

37

0

0

 

3

Homozygotes

2

67

0

0

1

33

Total

11

 

7

63

3

27

1

9

Without a pathogenic

 

26

Heterozygotes

11

42

5

19

6

23

 

1

Homozygotes

1

100

0

0

0

0

Total

27

 

12

44

5

19

6

22

  1. aPathogenic HMBS variants in AIP patients who are heterozygous (p.Gly111Arg, p.Arg116Trp, p.Gly218Arg, p.Gln153His, p.Arg173Trp, p.Arg225Ter, p.Gln332Ter, c.985_996del12, c.613–2A>G, c.912+1G>A) or homozygous (p.Arg167Trp, p.Arg195His, c.613–1G>T, c.478delC) for c.613–31A>G.
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