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NM_012158.3:c.445C>T
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NM_012158.3:c.445C>T
HGVS Expressions
NC_000013.10:g.77592761G>A
NM_012158.3:c.445C>T
NP_036290.1:p.Arg149Ter
Associated Genes
F-Box and Leucine-rich Repeat Protein 3
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Genomic Location
chr13:77018626
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
374431043
Clinvar
625419
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
606220.1.1
Lebanon
2
Pathogenic
Intellectual Development Disorder with Short Stature, Facial Anomalies and Speech defects
Ansar et al, 2019;
Mégarbané and Cormier-Daire, 2001
606220.1.2
Lebanon
2
Pathogenic
Intellectual Development Disorder with Short Stature, Facial Anomalies and Speech defects
Ansar et al, 2019;
Mégarbané and Cormier-Daire, 2001
Sibling of 606220.1.1
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Contributors
Pratibha Nair: 18.03.2020
Edit History
Pratibha Nair: 18.03.2020
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
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Iraq
Jordan
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Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
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Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
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Non-Arab Countries
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