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NM_000404.4:c.171C>G
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NM_000404.4:c.171C>G
HGVS Expressions
NG_009005.1:g.29585C>G
NM_000404.4:c.171C>G
NP_000395.3:p.Tyr57Ter
Associated Genes
Galactosidase, Beta-1
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Genomic Location
chr3:33072618
Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
398123350
Clinvar
92900
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
230500.1
Saudi Arabia
2
Pathogenic
GM1-Gangliosidosis, Type I
Georgiou et al. 2004
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Contributors
Sayeeda Hana: 18.08.2020
Edit History
Sayeeda Hana: 18.08.2020
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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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