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NM_005219.5:c.2332C>T
Home
NM_005219.5:c.2332C>T
HGVS Expressions
NG_011594.2:g.50538C>T
NM_005219.5:c.2332C>T
NP_005210.3:p.Gln778Ter
NC_000005.10:g.141573518G>A
Associated Genes
Diaphanous-Related Formin 1
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
730882242
Clinvar
183344
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
616632.1.1
Saudi Arabia
2
Pathogenic
Seizures, Cortical Blindness, and Microcephaly Syndrome
Ercan-Sencicek et al. 2015
Patient had a sibling that passed away a...
616632.1.2
Saudi Arabia
2
Pathogenic
Seizures, Cortical Blindness, and Microcephaly Syndrome
Alazami et al. 2015;
Ercan-Sencicek et al. 2015
Sibling of 616632.1.1
616632.1.3
Saudi Arabia
2
Pathogenic
Seizures, Cortical Blindness, and Microcephaly Syndrome
Ercan-Sencicek et al. 2015
Sibling of 616632.1.1
616632.1.4
Saudi Arabia
2
Pathogenic
Seizures, Cortical Blindness, and Microcephaly Syndrome
Ercan-Sencicek et al. 2015
Sibling of 616632.1.1
616632.1.5
Saudi Arabia
2
Pathogenic
Seizures, Cortical Blindness, and Microcephaly Syndrome
Ercan-Sencicek et al. 2015
Sibling of 616632.1.1
616632.1.6
Saudi Arabia
1
Ercan-Sencicek et al. 2015
Father of 616632.1.1
616632.1.7
Saudi Arabia
1
Ercan-Sencicek et al. 2015
Mother of 616632.1.1
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Contributors
Sayeeda Hana: 27.10.2021
Edit History
Sayeeda Hana: 03.11.2021
Sayeeda Hana: 27.10.2021
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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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