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NM_000394.4:c.160C>T
Home
NM_000394.4:c.160C>T
HGVS Expressions
NG_009823.1:g.5229C>T
NM_000394.4:c.160C>T
NP_000385.1:p.Arg54Cys
NC_000021.9:g.43169259C>T
Associated Genes
Crystallin, Alpha-A
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
397515623
Clinvar
68457
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
604219.1.1
Saudi Arabia
2
Pathogenic
Cataract 9, Multiple Types
Khan et al. 2007;
Khan et al. 2015
Maternal first cousin had a similar phen...
604219.1.2
Saudi Arabia
2
Pathogenic
Cataract 9, Multiple Types
Khan et al. 2007;
Khan et al. 2015
Brother of 604219.1.1
604219.1.3
Saudi Arabia
2
Pathogenic
Cataract 9, Multiple Types
Khan et al. 2007;
Khan et al. 2015
Sister of 604219.1.1
604219.1.G.1
Saudi Arabia
3
Khan et al. 2007;
Khan et al. 2015
Father, mother and sibling of 604219.1.1...
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Contributors
Sayeeda Hana: 27.01.2023
Edit History
Sayeeda Hana: 27.01.2023
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Algeria
Bahrain
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Morocco
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Palestine
Qatar
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Arab Countries with reported incidence
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