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NM_022482.5:c.1054dup
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NM_022482.5:c.1054dup
HGVS Expressions
NM_022482.5:c.1054dup
NP_071927.1:p.Thr352AsnfsTer50
NC_000020.11:g.23365437dup
Associated Genes
GDNF-Inducible Zinc Finger Protein 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Duplication
dbSNP
1555786729
Clinvar
438349
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
617662.2.1
Saudi Arabia
2
Pathogenic
Joint Laxity, Short Stature, and Myopia
Patel et al. 2017
Patient from 'family 2' in the publicati...
617662.2.2
Saudi Arabia
2
Pathogenic
Joint Laxity, Short Stature, and Myopia
Patel et al. 2017
Brother of 617662.2.1
617662.2.3
Saudi Arabia
2
Pathogenic
Joint Laxity, Short Stature, and Myopia
Patel et al. 2017
Brother of 617662.2.1
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Contributors
Asha Deepthi: 28.03.2023
Edit History
Asha Deepthi: 28.03.2023
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Algeria
Bahrain
Comoros
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Palestine
Qatar
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Arab Countries with reported incidence
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