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NM_207352.3:c.332T>C
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NM_207352.3:c.332T>C
HGVS Expressions
NG_007965.1:g.9488T>C
NM_207352.3:c.332T>C
NP_997235.3:p.Ile111Thr
Associated Genes
Cytochrome P450 Family 4 Subfamily V Member 2
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Genomic Location
chr4:186196007
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
119103283
Clinvar
2188
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
210370.2.1
Lebanon
2
Pathogenic
Bietti Crystalline Corneoretinal Dystrophy
Haddad et al., 2012
F2:II- 3
210370.2.2
Lebanon
2
Pathogenic
Bietti Crystalline Corneoretinal Dystrophy
Haddad et al., 2012
Sister of 210370.2.1 (F2:II-5)
210370.2.3
Lebanon
2
Pathogenic
Bietti Crystalline Corneoretinal Dystrophy
Haddad et al., 2012
Sister of 210370.2.1 (F2:II-8)
210370.3.1
Lebanon
2
Pathogenic
Bietti Crystalline Corneoretinal Dystrophy
Haddad et al., 2012
F3:IV-7
210370.3.2
Lebanon
2
Pathogenic
Bietti Crystalline Corneoretinal Dystrophy
Haddad et al., 2012
Daughter of 210370.3.1 (F3:V-2)
210370.3.3
Lebanon
2
Pathogenic
Bietti Crystalline Corneoretinal Dystrophy
Haddad et al., 2012
Son of 210370.3.1 (F3:V-3)
210370.3.4
Lebanon
2
Pathogenic
Bietti Crystalline Corneoretinal Dystrophy
Haddad et al., 2012
Daughter of 210370.3.1 (F3:V-8)
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Contributors
Asha Deepthi: 28.05.2019
Edit History
Asha Deepthi: 28.05.2019
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Algeria
Bahrain
Comoros
Country not specified
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Morocco
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Arab Countries with reported incidence
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