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NM_000383.3:c.205_208dup
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NM_000383.3:c.205_208dup
HGVS Expressions
NG_009556.1:g.5750_5753dup
NM_000383.3:c.205_208dup
NP_000374.1:p.Asp70AlafsTer148
NC_000021.9:g.44286629_44286632dup
Associated Genes
Autoimmune Regulator
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Duplication
dbSNP
886041124
Clinvar
279674
Epidemiology in the Arab World
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All Countries
Arab
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
240300.3
Saudi Arabia
2
Pathogenic
Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia
Faiyaz-Ul-Haque et al, 2009
240300.4
Saudi Arabia
2
Pathogenic
Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia
Faiyaz-Ul-Haque et al, 2009
240300.7
Arab
2
Pathogenic
Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia
Heino et al, 1999
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Contributors
Pratibha Nair: 23.10.2018
Edit History
Pratibha Nair: 08.11.2022
Sayeeda Hana: 26.09.2020
Pratibha Nair: 16.01.2019
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