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NM_006996.3:c.454_458delGGCATinsTA
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NM_006996.3:c.454_458delGGCATinsTA
HGVS Expressions
NG_008255.1:g.13463_13467deldelGGCATinsTA
NM_006996.3:c.454_458delGGCATinsTA
NP_008927.1:p.Gly152Ilefs*
Associated Genes
Solute Carrier Family 19 (Thiamine Transporter), Member 2
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Genomic Location
chr1:169477504:169477508
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Indel
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
249270.1
Lebanon
2
Likely Pathogenic
Thiamine-Responsive Megaloblastic Anemia Syndrome
Bergmann et al. 2009
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Contributors
Pratibha Nair: 07.04.2020
Edit History
Rahila Mir: 17.02.2022
Pratibha Nair: 07.04.2020
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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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