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NM_016239.4:c.1454T>C
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NM_016239.4:c.1454T>C
HGVS Expressions
NG_011634.2:g.16549T>C
NM_016239.4:c.1454T>C
NP_057323.3:p.Val485Ala
Associated Genes
Myosin XVA
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Genomic Location
chr17:18120254
Clinvar Clinical Significance
Likely Benign, Uncertain Significance
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
200532919
Clinvar
195313
Epidemiology in the Arab World
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All Countries
Lebanon
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
600316.1.1
Lebanon
2
NA
Likely Pathogenic
Deafness, Autosomal Recessive 3
Khalil et al, 2020
600316.1.2
Lebanon
2
NA
Likely Pathogenic
Deafness, Autosomal Recessive 3
Khalil et al, 2020
600316.1.3
Lebanon; Saudi Arabia
1
NA
Khalil et al, 2020
Father of the affected siblings
600316.1.4
Lebanon; Saudi Arabia
1
NA
Khalil et al, 2020
Mother of the affected siblings
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Contributors
Asha Deepthi: 22.10.2020
Edit History
Asha Deepthi: 22.10.2020
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
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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