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NM_000428.3:c.4313G>A
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NM_000428.3:c.4313G>A
HGVS Expressions
NG_021486.1:g.112293G>A
NM_000428.3:c.4313G>A
NP_000419.1:p.Cys1438Tyr
NC_000014.9:g.74505039C>T
Associated Genes
Latent Transforming Growth Factor-Beta-Binding Protein 2
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
387907175
Clinvar
31630
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
251750.3.1
Saudi Arabia
2
NA
Pathogenic
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma
Khan 2011
Patient from 'family 3' in the publicati...
251750.3.2
Saudi Arabia
2
NA
Pathogenic
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma
Khan 2011
Brother of 251750.3.1
251750.3.3
Saudi Arabia
2
NA
Pathogenic
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma
Khan 2011
Father of 251750.3.1
251750.3.4
Saudi Arabia
1
NA
Khan 2011
Mother of 251750.3.1
251750.3.5
Saudi Arabia
2
NA
Pathogenic
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma
Khan 2011
Paternal aunt of 251750.3.1
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Contributors
Asha Deepthi: 25.10.2022
Edit History
Asha Deepthi: 25.10.2022
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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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