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NM_020184.3:c.707G>A
Home
NM_020184.3:c.707G>A
HGVS Expressions
NG_016608.1:g.5805G>A
NM_020184.3:c.707G>A
NP_064569.3:p.Arg236Gln
NC_000002.12:g.96761706G>A
Associated Genes
Cyclin M4
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
75267011
Clinvar
2848
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
217080.1.1
Lebanon
2
NA
Likely Pathogenic
Jalili Syndrome
Polok et al. 2009
Proband from 'Family B' in the publicati...
217080.1.2
Lebanon
2
NA
Likely Pathogenic
Jalili Syndrome
Polok et al. 2009
Sister of 217080.1.1
217080.1.3
Lebanon
1
NA
Polok et al. 2009
Father of 217080.1.1
217080.1.4
Lebanon
1
NA
Polok et al. 2009
Mother of 217080.1.1
217080.1.5
Lebanon
2
NA
Likely Pathogenic
Jalili Syndrome
Polok et al. 2009
Maternal cousin of 217080.1.1
217080.1.6
Lebanon
1
NA
Polok et al. 2009
Maternal uncle of 217080.1.1, father of ...
217080.1.7
Lebanon
1
NA
Polok et al. 2009
Maternal aunt of 217080.1.1, mother of 2...
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Contributors
Edit History
Asha Deepthi: 14.03.2021
Asha Deepthi: 05.02.2019
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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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