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NM_000448.2:c.519delT
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NM_000448.2:c.519delT
HGVS Expressions
NG_007528.1:g.10811del
NM_000448.2:c.519delT
NP_000439.1:p.Glu174SerfsTer27
NC_000011.10:g.36573823del
Associated Genes
Recombination-Activating Gene 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
1241698978
Clinvar
13153
Epidemiology in the Arab World
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Algeria
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
609889.1.1
Algeria
2
Pathogenic
Alpha/Beta T-Cell Lymphoma with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity
de Villartay et al., 2005
609889.1.2
Algeria
1
Pathogenic
de Villartay et al., 2005
Mother of 609889.1.1
609889.1.3
Algeria
1
Pathogenic
de Villartay et al., 2005
Father of 609889.1.1
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Contributors
Pratibha Nair: 15.10.2018
Edit History
Pratibha Nair: 08.11.2022
Sayeeda Hana: 26.09.2020
Pratibha Nair: 09.01.2019
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Algeria
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