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NM_080647.1:c.1158_1159delinsT
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NM_080647.1:c.1158_1159delinsT
HGVS Expressions
NG_009229.1:g.14835_14836delinsT
NM_080647.1:c.1158_1159delinsT
NP_542378.1:p.Gly387AlafsTer73
NC_000022.11:g.19766537_19766538delinsT
Associated Genes
T-Box Transcription Factor 1
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CTGA Clinical Significance
Pathogenic
Variant Type
Indel
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
188400.1.1
Saudi Arabia
1
Pathogenic
DiGeorge Syndrome
Alghamdi et al. 2020
Proband
188400.1.2
Saudi Arabia
1
Pathogenic
DiGeorge Syndrome
Alghamdi et al. 2020
Sibling of proband
188400.1.3
Saudi Arabia
1
Pathogenic
DiGeorge Syndrome
Alghamdi et al. 2020
Sibling of proband
188400.1.4
Saudi Arabia
1
Pathogenic
DiGeorge Syndrome
Alghamdi et al. 2020
Father of proband. Siblings, parents, an...
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Contributors
Sami Bizzari: 13.09.2021
Edit History
Rahila Mir: 09.02.2022
Sami Bizzari: 13.09.2021
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
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Jordan
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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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