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NM_181453.4:c.3982C>T
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NM_181453.4:c.3982C>T
HGVS Expressions
NM_181453.4:c.3982C>T
NP_852118.2:p.His1328Tyr
NC_000002.12:g.108487750C>T
Associated Genes
Grip and Coiled-Coil Domain-Containing Protein 2
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
1036170628
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
612711.1.1
United Arab Emirates
2
Likely Pathogenic
Reuter et al. 2017
Authors classified this gene variant as ...
612711.1.2
United Arab Emirates
2
Likely Pathogenic
Reuter et al. 2017
Relative of 612711.1.1
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Contributors
Sayeeda Hana: 10.10.2024
Edit History
Sayeeda Hana: 30.10.2024
Sayeeda Hana: 10.10.2024
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