HGD mutation database
homogentisate 1,2-dioxygenase (HGD)
LOVD v.2.0 Build 38 [
Current LOVD status
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Curator:
Dr. Andrea Zatkova
(andrea.zatkova@savba.sk)
Exon number
-- all --
00
01
01-04
01i
02
02i
03
03i
04
04i
05
05i
05_06
06
06i
07
07i
08
08i
09
09i
10
10i
11
11i
12
12i
13
13i
13i14
14
Type of variant (DNA level)
Substitution
Deletion
Duplication
Insertion
Inversion
Insertion/Deletion
Translocation
Other/Complex
Disease
Please separate values by a semi-colon (;).
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