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NM_016038.4:c.258+2T>C
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NM_016038.4:c.258+2T>C
HGVS Expressions
NG_007277.1:g.6392T>C
NM_016038.4:c.258+2T>C
NC_000007.14:g.66994210A>G
Associated Genes
SBDS Ribosome Maturation Factor
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic, Risk factor
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
113993993
Clinvar
3196
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
260400.1
Saudi Arabia
2
NA
Likely Pathogenic
Shwachman-Diamond Syndrome 1
Maddirevula et al. 2018
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Contributors
Asha Deepthi: 15.02.2022
Edit History
Asha Deepthi: 15.02.2022
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Algeria
Bahrain
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Country not specified
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Morocco
Oman
Palestine
Qatar
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Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
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Non-Arab Countries
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