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NM_013296.4:c.379C>T
Home
NM_013296.4:c.379C>T
HGVS Expressions
NG_028108.2:g.27243C>T
NM_013296.4:c.379C>T
NP_037428.3:p.Arg127Ter
Associated Genes
G Protein Signaling Modulator 2
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Genomic Location
Chr1:108897592
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
267606854
Clinvar
1823
Epidemiology in the Arab World
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Palestine
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Subject ID
Country of Origin
Allele Count
CTGA Clinical Significance
Condition(s)
Reference
Remarks
604213.1.1
Palestine
2
Pathogenic
Chudley-McCullough Syndrome
Shahin et al. 2010;
Walsh et al. 2010
Parents and 2 unaffected siblings were h...
604213.1.2
Palestine
2
Pathogenic
Chudley-McCullough Syndrome
Shahin et al. 2010;
Walsh et al. 2010
Sibling of 604213.1.1
604213.1.3
Palestine
2
Pathogenic
Chudley-McCullough Syndrome
Shahin et al. 2010;
Walsh et al. 2010
Sibling of 604213.1.1
604213.1.4
Palestine
2
Pathogenic
Chudley-McCullough Syndrome
Shahin et al. 2010;
Walsh et al. 2010
First cousin of 604213.1.1. Parents and ...
604213.1.5
Palestine
2
Pathogenic
Chudley-McCullough Syndrome
Shahin et al. 2010;
Walsh et al. 2010
First cousin of 604213.1.1
604213.1.6
Palestine
2
Pathogenic
Chudley-McCullough Syndrome
Shahin et al. 2010;
Walsh et al. 2010
First cousin of 604213.1.1
604213.1.7
Palestine
2
Pathogenic
Chudley-McCullough Syndrome
Shahin et al. 2010;
Walsh et al. 2010
First cousin once removed of 604213.1.1;...
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Contributors
Pratibha Nair: 29.10.2018
Edit History
Pratibha Nair: 30.04.2020
Pratibha Nair: 17.01.2019
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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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