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NM_001378615.1:c.3364C>T
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NM_001378615.1:c.3364C>T
HGVS Expressions
NG_013035.1:g.102887C>T
NM_001378615.1:c.3364C>T
NP_001365544.1:p.Pro1122Ser
NC_000004.12:g.15567752C>T
Associated Genes
Coiled-Coil And C2 Domains-Containing Protein 2A
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic, Uncertain Significance
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
118204051
Clinvar
743
Epidemiology in the Arab World
View Map
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
612285.1
Saudi Arabia
2
NA
Likely Pathogenic
Joubert Syndrome 9
Maddirevula et al. 2018
612285.2
Saudi Arabia
2
NA
Likely Pathogenic
Joubert Syndrome 9
Maddirevula et al. 2018
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Contributors
Asha Deepthi: 27.10.2021
Edit History
Asha Deepthi: 27.10.2021
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Arab Countries with reported incidence
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