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NM_000190.4:c.594G>A
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NM_000190.4:c.594G>A
HGVS Expressions
NG_008093.1:g.11632G>A
NM_000190.4:c.594G>A
NP_000181.2:p.Trp198Ter
NC_000011.10:g.119091508G>A
Associated Genes
Hydroxymethylbilane Synthase
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
176000.1.1
United Arab Emirates
1
Likely Pathogenic
Porphyria, Acute Intermittent
Yusuf et al. 2023
Patient is comorbid for SLE and AIP.
176000.1.2
United Arab Emirates
1
Likely Pathogenic
Porphyria, Acute Intermittent
Yusuf et al. 2023
Sister of 176000.1.1
176000.1.3
United Arab Emirates
1
Likely Pathogenic
Porphyria, Acute Intermittent
Yusuf et al. 2023
Cousin of 176000.1.1
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Contributors
Sayeeda Hana: 15.07.2024
Edit History
Sayeeda Hana: 16.07.2024
Sayeeda Hana: 15.07.2024
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