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NM_144966.5:c.2722del
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NM_144966.5:c.2722del
HGVS Expressions
NG_017005.2:g.102254del
NM_144966.5:c.2722del
NP_659403.4:p.Val908fs
Associated Genes
FRAS1-Related Extracellular Matrix Protein 1
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Genomic Location
chr9:14812984
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
1588131370
Clinvar
1988
Epidemiology in the Arab World
View Map
Egypt
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
608980.1.1
Egypt
2
Pathogenic
Bifid Nose, Renal Agenesis, and Anorectal Malformations
Al-Gazali et al. 2002;
Alazami et al. 2009
608980.1.2
Egypt
2
Pathogenic
Bifid Nose, Renal Agenesis, and Anorectal Malformations
Al-Gazali et al. 2002;
Alazami et al. 2009
Sibling of 608980.1.1
608980.1.3
Egypt
2
Pathogenic
Bifid Nose, Renal Agenesis, and Anorectal Malformations
Al-Gazali et al. 2002;
Alazami et al. 2009
608980.1.4
Egypt
2
Pathogenic
Bifid Nose, Renal Agenesis, and Anorectal Malformations
Al-Gazali et al. 2002;
Alazami et al. 2009
Sibling of 608980.1.1
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Contributors
Pratibha Nair: 05.08.2020
Edit History
Sayeeda Hana: 05.10.2020
Pratibha Nair: 05.08.2020
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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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