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NM_012205.3:c.483dup
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NM_012205.3:c.483dup
HGVS Expressions
NM_012205.3:c.483dup
NP_036337.2:p.Asp162Ter
NC_000002.12:g.42770144dup
Associated Genes
3-Hydroxyanthranilate 3,4-Dioxygenase
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Duplication
dbSNP
527656756
Clinvar
403727
Epidemiology in the Arab World
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Iraq
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
617660.1.1
Iraq
2
Pathogenic
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1
Shi et al. 2017
617660.1.2
Iraq
1
Pathogenic
Shi et al. 2017
Father of 617660.1.1
617660.1.3
Iraq
1
Pathogenic
Shi et al. 2017
Mother of 617660.1.1
617660.1.G
Iraq
4
Pathogenic
Shi et al. 2017
4 siblings of 617660.1.1
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Contributors
Pratibha Nair: 12.01.2021
Edit History
Pratibha Nair: 12.01.2021
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
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Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
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Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
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