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NM_153240.5:c.2694-2_2694-1del
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NM_153240.5:c.2694-2_2694-1del
HGVS Expressions
NG_008130.2:g.38168_38169del
NM_153240.5:c.2694-2_2694-1del
NC_000003.12:g.132689264_132689265del
Associated Genes
Nephrocystin 3
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
751527253
Clinvar
220868
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
208540.1
Saudi Arabia
2
Likely Pathogenic
Renal-Hepatic-Pancreatic Dysplasia 1
Monies et al. 2019
208540.2
Saudi Arabia
2
Likely Pathogenic
Renal-Hepatic-Pancreatic Dysplasia 1
Monies et al. 2019
208540.3
Saudi Arabia
2
Likely Pathogenic
Renal-Hepatic-Pancreatic Dysplasia 1
Monies et al. 2019
267010.1.1
Saudi Arabia
1
Monies et al. 2019
Mother of 267010.1.G
267010.1.2
Saudi Arabia
1
Monies et al. 2019
Father of 267010.1.G
267010.2.1
Saudi Arabia
1
Monies et al. 2019
Mother of 267010.2.G
267010.2.2
Saudi Arabia
1
Monies et al. 2019
Father of 267010.2.G
267010.3
Saudi Arabia
2
Likely Pathogenic
Meckel Syndrome, Type 7
Monies et al. 2019
267010.4
Saudi Arabia
2
Likely Pathogenic
Meckel Syndrome, Type 7
Monies et al. 2019
267010.5
Saudi Arabia
2
Likely Pathogenic
Meckel Syndrome, Type 7
Monies et al. 2019
267010.1.G
Saudi Arabia
4
Likely Pathogenic
Meckel Syndrome, Type 7
Monies et al. 2019
Two deceased neonates
267010.2.G
Saudi Arabia
4
Likely Pathogenic
Meckel Syndrome, Type 7
Monies et al. 2019
Two deceased neonates
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Contributors
Pratibha Nair: 30.11.2023
Edit History
Pratibha Nair: 05.12.2023
Pratibha Nair: 30.11.2023
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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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