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NM_016938.5:c.506G>A
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NM_016938.5:c.506G>A
HGVS Expressions
NG_012304.2:g.7713G>A
NM_016938.5:c.506G>A
NP_058634.4:p.Arg169His
NC_000011.10:g.65870222C>T
Associated Genes
EGF-Containing Fibulin-Like Extracellular Matrix Protein 2
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Clinvar Clinical Significance
Uncertain Significance
CTGA Clinical Significance
Uncertain Significance
Variant Type
Substitution
dbSNP
141310608
Clinvar
472828
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
614437.1
Saudi Arabia
2
NA
Uncertain Significance
Cutis Laxa, Autosomal Recessive, Type IB
Maddirevula et al. 2018
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Contributors
Asha Deepthi: 16.11.2021
Edit History
Asha Deepthi: 16.11.2021
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
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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