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NM_152468.5:c.917A>T
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NM_152468.5:c.917A>T
HGVS Expressions
NG_007881.1:g.8717A>T
NP_689681.2:p.Asn306Ile
Associated Genes
Transmembrane Channel-Like protein 8
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Genomic Location
chr17:78134494
Clinvar Clinical Significance
Benign
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
7208422
Clinvar
403548
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
247100.9
Lebanon
1
Likely Pathogenic
Epidermodysplasia Verruciformis, Susceptibility to, 2
O'Blenes et al. 2015
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Contributors
Pratibha Nair: 30.06.2020
Edit History
Pratibha Nair: 30.06.2020
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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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