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NM_001378615.1:c.4583G>A
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NM_001378615.1:c.4583G>A
HGVS Expressions
NG_013035.1:g.134750G>A
NM_001378615.1:c.4583G>A
NP_001365544.1:p.Arg1528His
NC_000004.12:g.15599615G>A
Associated Genes
Coiled-Coil And C2 Domains-Containing Protein 2A
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Clinvar Clinical Significance
Uncertain Significance
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
886940102
Clinvar
597406
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
612285.3
United Arab Emirates
1
NA
Likely Pathogenic
Joubert Syndrome 9
Ben-Salem et al. 2014
Patient from 'MTI-127' family in the pub...
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Contributors
Asha Deepthi: 30.09.2022
Edit History
Asha Deepthi: 30.09.2022
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Algeria
Bahrain
Comoros
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Palestine
Qatar
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United Arab Emirates
Yemen
Arab Countries with reported incidence
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