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NM_000383.3:c.1A>G
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NM_000383.3:c.1A>G
HGVS Expressions
NG_009556.1:g.5128A>G
NM_000383.3:c.1A>G
NP_000374.1:p.Met1?
NC_000021.9:g.44286007A>G
Associated Genes
Autoimmune Regulator
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
121434258
Clinvar
551136
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
240300.5
Saudi Arabia
2
Pathogenic
Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia
Faiyaz-Ul-Haque et al, 2009
Affected sister not genotyped
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Contributors
Pratibha Nair: 23.10.2018
Edit History
Pratibha Nair: 08.11.2022
Pratibha Nair: 16.01.2019
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