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NM_004238.1:c.3446_3447del
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NM_004238.1:c.3446_3447del
HGVS Expressions
NG_053017.1:g.131499_131500del
NM_004238.1:c.3446_3447del
NP_004229.1:p.Val1148_Ser1149insTer
NC_000002.12:g.229796735_229796736del
Associated Genes
Thyroid Hormone Receptor Interactor 12
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
1553614300
Clinvar
446139
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
617752.2
Saudi Arabia
1
Likely Pathogenic
Clark-Baraitser Syndrome
Zhang et al. 2017
Variant is de novo
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Contributors
Asha Deepthi: 06.05.2021
Edit History
Asha Deepthi: 06.05.2021
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Algeria
Bahrain
Comoros
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Jordan
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Morocco
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Palestine
Qatar
Saudi Arabia
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United Arab Emirates
Yemen
Arab Countries with reported incidence
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