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NM_000104.3:c.535delG
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NM_000104.3:c.535delG
HGVS Expressions
NG_008386.2:g.6248delG
NM_000104.3:c.535delG
NP_000095.2:p.Ala179fs
Associated Genes
Cytochrome P450, Subfamily I, Polypeptide 1
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Genomic Location
chr2:38074855
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
771076928
Clinvar
523943
Epidemiology in the Arab World
View Map
Morocco
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
231300.30
Morocco
1
Pathogenic
Glaucoma 3, Primary Congenital, A
Hilal et al. 2010
No response to surgery and medication
231300.31
Morocco
1
Pathogenic
Glaucoma 3, Primary Congenital, A
Hilal et al. 2010
Bad prognosis
231300.34
Morocco
1
Pathogenic
Glaucoma 3, Primary Congenital, A
Hilal et al. 2010
231300.35
Morocco
1
Pathogenic
Glaucoma 3, Primary Congenital, A
Hilal et al. 2010
No response to surgery and medication ...
231300.G.16
Morocco
14
Pathogenic
Glaucoma 3, Primary Congenital, A
Belmouden et al. 2002
7 affected patients
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Contributors
Pratibha Nair: 28.04.2019
Edit History
Sayeeda Hana: 26.09.2020
Pratibha Nair: 30.04.2019
Pratibha Nair: 28.04.2019
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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