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NM_001146079.2:c.278T>G
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NM_001146079.2:c.278T>G
HGVS Expressions
NG_011777.1:g.120152T>G
NM_001146079.2:c.278T>G
NP_001139551.1:p.Ile93Arg
NC_000021.9:g.36461418A>C
Associated Genes
Claudin 14
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
Epidemiology in the Arab World
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United Arab Emirates
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Subject ID
Country of Origin
Allele Count
CTGA Clinical Significance
Condition(s)
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Remarks
614035.1
United Arab Emirates
2
Likely Pathogenic
Deafness, Autosomal Recessive 29
Elsayed O and Al-Shamsi A. 2022
Autosomal recessive
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Sami Bizzari: 02.10.2023
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Sami Bizzari: 09.10.2023
Sami Bizzari: 02.10.2023
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العربية
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العربية
Home
About Us
CTGA Database
CTGA Overview
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Research Articles
Genetics Made Easy
Genetic Disorders in the Arab World
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Contact Us