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NM_138425.4:c.1A>G
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NM_138425.4:c.1A>G
HGVS Expressions
NG_034262.1:g.5306A>G
NM_138425.4:c.1A>G
NP_612434.1:p.Met1?
NC_000012.12:g.6944122A>G
Associated Genes
Chromosome 12 Open Reading Frame 57
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
587776954
Clinvar
41942
Epidemiology in the Arab World
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Kuwait
Libya
Palestine
Saudi Arabia
Syria
United Arab Emirates
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Subject ID
Country of Origin
Allele Count
CTGA Clinical Significance
Condition(s)
Reference
Remarks
218340.1.1
United Arab Emirates
2
Pathogenic
Temtamy Syndrome
Akizu et al. 2013
Proband. Parents are first-cousins
218340.1.2
United Arab Emirates
2
Pathogenic
Temtamy Syndrome
Akizu et al. 2013
Sister of proband.
218340.1.3
United Arab Emirates
2
Pathogenic
Temtamy Syndrome
Akizu et al. 2013
Sister of proband.
218340.1.4
United Arab Emirates
1
Akizu et al. 2013
Healthy mother of proband.
218340.1.5
United Arab Emirates
1
Akizu et al. 2013
Healthy father of proband.
218340.2.1
Kuwait
2
Pathogenic
Temtamy Syndrome
Akizu et al. 2013
Proband. Parents are first-cousins.
218340.2.2
Kuwait
2
Pathogenic
Temtamy Syndrome
Akizu et al. 2013
Sibling of proband.
218340.2.3
Kuwait
2
Pathogenic
Temtamy Syndrome
Akizu et al. 2013
Sibling of proband.
218340.2.5
Kuwait
1
Akizu et al. 2013
Father of proband.
218340.3.1
Libya
2
Pathogenic
Temtamy Syndrome
Akizu et al. 2013
Proband.
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Contributors
Sami Bizzari: 30.08.2021
Edit History
Sayeeda Hana: 26.11.2024
Asha Deepthi: 04.10.2024
Pratibha Nair: 18.12.2023
Sami Bizzari: 27.12.2022
Sayeeda Hana: 26.11.2022
Pratibha Nair: 15.09.2022
Sayeeda Hana: 23.10.2021
Pratibha Nair: 12.10.2021
Sami Bizzari: 05.09.2021
Sami Bizzari: 02.09.2021
Sami Bizzari: 30.08.2021
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Algeria
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Comoros
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Libya
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Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
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Arab Countries with reported incidence
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Non-Arab Countries
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العربية
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العربية
Home
About Us
CTGA Database
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