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NM_015120.4:c.10945G>T
Home
NM_015120.4:c.10945G>T
HGVS Expressions
NG_011690.1:g.192067G>T
NM_015120.4:c.10945G>T
NP_055935.4:p.Glu3649Ter
Associated Genes
ALMS1 Centrosome and Basal Body Associated Protein
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Genomic Location
chr2:73572819
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
397514576
Clinvar
39748
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
204000.2.1
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 1
Wang et al. 2011
204000.2.2
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 1
Wang et al. 2011
Brother of 204000.2.1
204000.2.3
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 1
Wang et al. 2011
Brother of 204000.2.1
204000.2.4
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 1
Wang et al. 2011
Sister of 204000.2.1
204000.2.5
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 1
Wang et al. 2011
First-cousin of 204000.2.1
204000.2.6
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 1
Wang et al. 2011
First-cousin of 204000.2.1
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Contributors
Sayeeda Hana: 20.07.2020
Edit History
Sayeeda Hana: 20.07.2020
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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