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NM_032119.4:c.10054-2A>G
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NM_032119.4:c.10054-2A>G
HGVS Expressions
NG_007083.2:g.201204A>G
NM_032119.4:c.10054-2A>G
NP_115495.3:p.?
NC_000005.10:g.90725547A>G
Associated Genes
Adhesion G Protein-Coupled Receptor V1
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
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
605472.5.1
United Arab Emirates
2
Likely Pathogenic
Usher Syndrome, Type IIC
Khan. 2024
Patient from 'family 4' in the publicati...
605472.5.2
United Arab Emirates
2
Likely Pathogenic
Usher Syndrome, Type IIC
Khan. 2024
Sister of 605472.5.1
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Contributors
Asha Deepthi: 21.08.2024
Edit History
Asha Deepthi: 21.08.2024
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