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NM_198309.3:c.459G>A
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NM_198309.3:c.459G>A
HGVS Expressions
NG_008126.2:g.22044G>A
NM_198309.3:c.459G>A
NP_938051.1:p.Thr153=
NC_000014.9:g.88841196G>A
Associated Genes
Tetratricopeptide Repeat Domain-Containing Protein 8
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic, Uncertain Significance
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
119103286
Clinvar
2530
Epidemiology in the Arab World
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Arab
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
615985.1.1
Arab
2
Likely Pathogenic
Bardet-Biedl Syndrome 8
Stoetzel et al. 2006
North African. Proband. Patient exhibite...
615985.1.2
Arab
2
Likely Pathogenic
Bardet-Biedl Syndrome 8
Stoetzel et al. 2006
Sister of patient 615985.1.1. She exhibi...
615985.1.3
Arab
2
Likely Pathogenic
Bardet-Biedl Syndrome 8
Stoetzel et al. 2006
Sister of patient 615985.1.1.
615985.1.4
Arab
1
Likely Pathogenic
Stoetzel et al. 2006
Mother of patient 615985.1.1.
615985.1.5
Arab
1
Likely Pathogenic
Stoetzel et al. 2006
Father of patient 615985.1.1.
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Contributors
Sami Bizzari: 13.01.2021
Edit History
Sami Bizzari: 13.01.2021
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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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