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NM_001199799.1:c.804del
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NM_001199799.1:c.804del
HGVS Expressions
NG_031870.1:g.33336del
NM_001199799.1:c.804del
NP_001186728.1:p.Gln269ArgfsTer4
NC_000003.12:g.121993945del
Associated Genes
Immunoglobulin-Like Domain-Containing Receptor 1
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
609646.G.1.1
United Arab Emirates
10
Likely Pathogenic
Deafness, Autosomal Recessive 42
Tlili et al. 2017
5 affected siblings
609646.G.1.2
United Arab Emirates
5
Likely Pathogenic
Tlili et al. 2017
Parents and 3 unaffected siblings of 609...
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Contributors
Pratibha Nair: 26.08.2021
Edit History
Rahila Mir: 09.02.2022
Pratibha Nair: 26.08.2021
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