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NM_001195263.2:c.918dup
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NM_001195263.2:c.918dup
HGVS Expressions
NG_028030.1:g.15530dup
NM_001195263.2:c.918dup
NP_001182192.1:p.Leu307AlafsTer17
NC_000010.11:g.101020629dup
Associated Genes
PDZ Domain-Containing 7
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Duplication
dbSNP
2134074165
Clinvar
1455175
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
613581.2.4
United Arab Emirates
2
Pathogenic
Usher Syndrome, Type IIC
Khan and Al Teneiji. 2019;
Khan. 2024
Sibling of 613581.2.1. This patient is a...
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Contributors
Asha Deepthi: 21.08.2024
Edit History
Asha Deepthi: 21.08.2024
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