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NM_013296.4:c.1055C>A
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NM_013296.4:c.1055C>A
HGVS Expressions
NG_028108.2:g.32878C>A
NM_013296.4:c.1055C>A
NP_037428.3:p.Ser352*
NC_000001.11:g.108903227C>A
Associated Genes
G Protein Signaling Modulator 2
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CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
Epidemiology in the Arab World
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All Countries
United Arab Emirates
Yemen
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
604213.2.1
Yemen
2
Pathogenic
Chudley-McCullough Syndrome
Hamzeh et al. 2016
604213.2.2
Yemen
2
Pathogenic
Chudley-McCullough Syndrome
Hamzeh et al. 2016
Brother of 604213.2.1
604213.3
United Arab Emirates
2
Likely Pathogenic
Chudley-McCullough Syndrome
Tlili et al. 2024
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Contributors
Pratibha Nair: 29.10.2018
Edit History
Asha Deepthi: 27.08.2024
Rahila Mir: 17.02.2022
Pratibha Nair: 17.01.2019
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