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NM_203475.3:c.268C>T
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NM_203475.3:c.268C>T
HGVS Expressions
NG_009278.1:g.7444C>T
NM_203475.3:c.268C>T
NP_982301.1:p.Arg90Ter
NC_000023.11:g.48511426C>T
Associated Genes
Porcupine O-Acyltransferase
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
1114167283
Clinvar
242872
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
305600.2
Saudi Arabia
1
Pathogenic
Focal Dermal Hypoplasia
Charng et al. 2016
Proband from 'family 010' in the publica...
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Contributors
Asha Deepthi: 01.08.2024
Edit History
Asha Deepthi: 01.08.2024
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Algeria
Bahrain
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Qatar
Saudi Arabia
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Yemen
Arab Countries with reported incidence
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