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NM_138691.2:c.100C>T
Home
NM_138691.2:c.100C>T
HGVS Expressions
NG_008213.1:g.177778C>T
NM_138691.2:c.100C>T
NP_619636.2:p.Arg34Ter
NC_000009.12:g.72694578C>T
Associated Genes
Transmembrane Channel-Like Protein 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
121908073
Clinvar
4103
Epidemiology in the Arab World
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All Countries
Algeria
Iraq
Lebanon
Tunisia
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
600974.1.1
Tunisia
2
Pathogenic
Deafness, Autosomal Recessive 7
Ben Said et al, 2010
600974.1.2
Tunisia
2
Pathogenic
Deafness, Autosomal Recessive 7
Ben Said et al, 2010
600974.1.3
Tunisia
2
Pathogenic
Deafness, Autosomal Recessive 7
Ben Said et al, 2010
600974.1.4
Tunisia
2
Pathogenic
Deafness, Autosomal Recessive 7
Ben Said et al, 2010
600974.1.5
Algeria
2
Pathogenic
Deafness, Autosomal Recessive 7
Ben Said et al, 2010
600974.1.6
Algeria
2
Pathogenic
Deafness, Autosomal Recessive 7
Ben Said et al, 2010
600974.1.7
Iraq
2
Pathogenic
Deafness, Autosomal Recessive 7
Ben Said et al, 2010
600974.1.8
Lebanon
2
Pathogenic
Deafness, Autosomal Recessive 7
Ben Said et al, 2010
600974.7
United Arab Emirates
2
Likely Pathogenic
Deafness, Autosomal Recessive 7
Alobathani et al. 2018
At least 2 affected families with the sa...
600974.G
United Arab Emirates
10
Likely Pathogenic
Deafness, Autosomal Recessive 7
Elsayed O and Al-Shamsi A. 2022
Five individuals with no other informati...
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Contributors
Pratibha Nair: 18.07.2022
Sayeeda Hana: 10.09.2019
Edit History
Sami Bizzari: 15.11.2023
Pratibha Nair: 18.07.2022
Sayeeda Hana: 10.09.2019
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Tunisia
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Arab Countries with reported incidence
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