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NM_002834.5:c.1510A>G
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NM_002834.5:c.1510A>G
HGVS Expressions
NG_007459.1:g.75355A>G
NM_002834.5:c.1510A>G
NP_002825.3:p.Met504Val
NC_000012.12:g.112489086A>G
Associated Genes
Protein-Tyrosine Phosphatase, Nonreceptor-Type, 11
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
397507547
Clinvar
40562
Epidemiology in the Arab World
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All Countries
Lebanon
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
156250.1
Saudi Arabia
1
NA
Pathogenic
Metachondromatosis
Maddirevula et al. 2018
De novo mutation
163950.2
Lebanon
1
Pathogenic
Noonan Syndrome 1
Jalkh et al. 2019
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Contributors
Pratibha Nair: 06.12.2020
Edit History
Asha Deepthi: 11.02.2022
Pratibha Nair: 06.12.2020
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Algeria
Bahrain
Comoros
Country not specified
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Iraq
Jordan
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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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