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NM_194248.2:c.4491T>A
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NM_194248.2:c.4491T>A
HGVS Expressions
NG_009937.1:g.96976T>A
NM_194248.2:c.4491T>A
NP_919224.1:p.Tyr1497Ter
Associated Genes
Otoferlin
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Genomic Location
chr2:26466723
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
80356600
Clinvar
6133
Epidemiology in the Arab World
View Map
Lebanon
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entries
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Subject ID
Country of Origin
Allele Count
CTGA Clinical Significance
Condition(s)
Reference
Remarks
601071.1.1
Lebanon
2
Pathogenic
Deafness, Autosomal Recessive 9
Chaib et al. 1996;
Yasunaga et al. 1999
601071.1.2
Lebanon
2
Pathogenic
Deafness, Autosomal Recessive 9
Chaib et al. 1996;
Yasunaga et al. 1999
Sibling of 601071.1.1
601071.1.3
Lebanon
2
Pathogenic
Deafness, Autosomal Recessive 9
Chaib et al. 1996;
Yasunaga et al. 1999
Sibling of 601071.1.1
601071.1.4
Lebanon
2
Pathogenic
Deafness, Autosomal Recessive 9
Chaib et al. 1996;
Yasunaga et al. 1999
Sibling of 601071.1.1
601071.1.5
Lebanon
2
Pathogenic
Deafness, Autosomal Recessive 9
Chaib et al. 1996;
Yasunaga et al. 1999
Second cousin of 601071.1.1
601071.1.6
Lebanon
2
Pathogenic
Deafness, Autosomal Recessive 9
Chaib et al. 1996;
Yasunaga et al. 1999
First cousin of 601071.1.5
601071.1.7
Lebanon
2
Pathogenic
Deafness, Autosomal Recessive 9
Chaib et al. 1996;
Yasunaga et al. 1999
Sibling of 601071.1.16
601071.1.8
Lebanon
2
Pathogenic
Deafness, Autosomal Recessive 9
Chaib et al. 1996;
Yasunaga et al. 1999
First cousin of 601071.1.6
601071.1.9
Lebanon
2
Pathogenic
Deafness, Autosomal Recessive 9
Chaib et al. 1996;
Yasunaga et al. 1999
Sibling of 601071.1.8
601071.1.10
Lebanon
2
Pathogenic
Deafness, Autosomal Recessive 9
Chaib et al. 1996;
Yasunaga et al. 1999
Sibling of 601071.1.8
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Contributors
Pratibha Nair: 25.02.2019
Edit History
Pratibha Nair: 08.11.2020
Pratibha Nair: 25.02.2019
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
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Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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العربية
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