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NM_000551.3:c.340+1G>T
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NM_000551.3:c.340+1G>T
HGVS Expressions
NG_008212.3:g.5554G>T
NM_000551.3:c.340+1G>T
Associated Genes
VHL Gene
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Genomic Location
chr3:10142188
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
730882032
Clinvar
223190
Epidemiology in the Arab World
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Kuwait
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
193300.1.1
Kuwait
1
Pathogenic
Von Hippel-Lindau Syndrome
AlFadhli et al. 2004
193300.1.2
Kuwait
1
Pathogenic
Von Hippel-Lindau Syndrome
AlFadhli et al. 2004
Brother of 193300.1.1
193300.1.3
Kuwait
1
Pathogenic
Von Hippel-Lindau Syndrome
AlFadhli et al. 2004
Brother of 193300.1.1
193300.1.4
Kuwait
1
Pathogenic
Von Hippel-Lindau Syndrome
AlFadhli et al. 2004
Sister of 193300.1.1
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Contributors
Sayeeda Hana: 21.03.2020
Edit History
Sayeeda Hana: 21.03.2020
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
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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
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