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NM_000203.5:c.878_889dup
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NM_000203.5:c.878_889dup
HGVS Expressions
NG_008103.1:g.20071_20082dup
NM_000203.5:c.878_889dup
NP_000194.2:p.Thr293_Tyr296dup
NC_000004.12:g.1002067_1002078dup
Associated Genes
Alpha-L-Iduronidase
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Duplication
dbSNP
779762183
Clinvar
550382
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
607014.1
Saudi Arabia
1
NA
Likely Pathogenic
Hurler Syndrome
Maddirevula et al. 2018
Patient's parents are from the same regi...
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Contributors
Asha Deepthi: 22.12.2021
Edit History
Asha Deepthi: 22.12.2021
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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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