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NM_025114.4:c.5668G>T
Home
NM_025114.4:c.5668G>T
HGVS Expressions
NG_008417.2:g.69954G>T
NM_025114.4:c.5668G>T
NP_079390.3:p.Gly1890Ter
NC_000012.12:g.88077263C>A
Associated Genes
Centrosomal Protein 290
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
137852832
Clinvar
1333
Epidemiology in the Arab World
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All Countries
Saudi Arabia
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
268000.3
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa
Patel et al. 2016
610188.1
Saudi Arabia
2
Pathogenic
Joubert Syndrome 5
Al-Hamed et al. 2016
610188.2
Saudi Arabia
2
Pathogenic
Joubert Syndrome 5
Al-Hamed et al. 2016
Has a similarly affected sibling
610188.6
Saudi Arabia
2
NA
Pathogenic
Joubert Syndrome 5
Maddirevula et al. 2018
610188.7
Saudi Arabia
2
NA
Pathogenic
Joubert Syndrome 5
Maddirevula et al. 2018
610188.9
United Arab Emirates
2
Pathogenic
Joubert Syndrome 5
Brancati et al. 2007
610188.10
United Arab Emirates
2
Pathogenic
Joubert Syndrome 5
Brancati et al. 2007
610188.11
United Arab Emirates
2
NA
Pathogenic
Joubert Syndrome 5
Ben-Salem et al. 2014
Patient from 'JS_F11' family in the publ...
610189.12
United Arab Emirates
2
NA
Pathogenic
Joubert Syndrome 5
Ben-Salem et al. 2014
Patient from 'MTI_587' family in the pub...
610190.13
United Arab Emirates
2
NA
Pathogenic
Joubert Syndrome 5
Ben-Salem et al. 2014
Patient from 'MTI_012' family in the pub...
611134.1
Saudi Arabia
2
NA
Pathogenic
Meckel Syndrome, Type 4
Maddirevula et al. 2018
610190.G.1
United Arab Emirates
3
NA
Pathogenic
Joubert Syndrome 5
Ben-Salem et al. 2014
Three patients from 'MTI_1001' family in...
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Contributors
Pratibha Nair: 03.08.2020
Edit History
Sayeeda Hana: 06.08.2024
Pratibha Nair: 12.01.2023
Asha Deepthi: 30.09.2022
Pratibha Nair: 23.08.2022
Sayeeda Hana: 07.05.2022
Asha Deepthi: 31.10.2021
Pratibha Nair: 03.08.2020
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Algeria
Bahrain
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Egypt
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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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