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NM_001330437.1:c.836A>G
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NM_001330437.1:c.836A>G
HGVS Expressions
NG_007459.1:g.59292A>G
NM_001330437.1:c.836A>G
NP_001317366.1:p.Tyr279Cys
NC_000012.12:g.112473023A>G
Associated Genes
Protein-Tyrosine Phosphatase, Nonreceptor-Type, 11
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
121918456
Clinvar
13328
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
163950.3
Lebanon
1
Likely Pathogenic
Noonan Syndrome 1
Kruszka et al. 2017
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Contributors
Pratibha Nair: 05.07.2021
Edit History
Pratibha Nair: 05.07.2021
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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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