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NM_020547.3:c.762C>G
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NM_020547.3:c.762C>G
HGVS Expressions
NG_015981.1:g.6975C>G
NM_020547.3:c.762C>G
NP_065434.1:p.His254Gln
Associated Genes
Anti-Mullerian Hormone Type II Receptor
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Genomic Location
chr12:53425829
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
115267458
Clinvar
734341
Epidemiology in the Arab World
View Map
Jordan
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
261550.3.1
Jordan
2
Pathogenic
Persistent Mullerian Duct Syndrome, Types I and II
Abduljabbar et al. 2012
261550.3.2
Jordan
2
Pathogenic
Abduljabbar et al. 2012
Sister of 261550.3.1
261550.3.3
Jordan
1
Pathogenic
Abduljabbar et al. 2012
Sister of 261550.3.1
261550.3.4
Jordan
1
Pathogenic
Abduljabbar et al. 2012
Sister of 261550.3.1
261550.3.5
Jordan
1
Pathogenic
Abduljabbar et al. 2012
Father of 261550.3.1
261550.3.6
Jordan
1
Pathogenic
Abduljabbar et al. 2012
Mother of 261550.3.1
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Contributors
Sayeeda Hana: 02.09.2020
Edit History
Sayeeda Hana: 02.09.2020
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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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