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NM_004004.6:c.334_335del
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NM_004004.6:c.334_335del
HGVS Expressions
NG_008358.1:g.8728_8729del
NM_004004.6:c.334_335del
NP_003995.2:p.Lys112fs
NC_000013.11:g.20189248_20189249del
Associated Genes
Gap Junction Protein, Beta-2
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
756484720
Clinvar
189051
Epidemiology in the Arab World
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Egypt
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
220290.8
Egypt
1
NA
Likely Pathogenic
Deafness, Autosomal Recessive 1A
Snoeckx et al. 2005
220290.G.6.2
Egypt
3
NA
Likely Pathogenic
Deafness, Autosomal Recessive 1A
Snoeckx et al. 2005
3 patients from the same family
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Contributors
Edit History
Asha Deepthi: 11.03.2021
Asha Deepthi: 28.01.2019
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Algeria
Bahrain
Comoros
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Morocco
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Palestine
Qatar
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Arab Countries with reported incidence
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