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NM_006086.4:c.136C>T
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NM_006086.4:c.136C>T
HGVS Expressions
NG_027810.1:g.15641C>T
NM_006086.4:c.136C>T
NP_006077.2:p.Arg46Trp
NC_000016.10:g.89932649C>T
Associated Genes
Tubulin, Beta-3
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
1555625363
Clinvar
438582
Epidemiology in the Arab World
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Jordan
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
614039.1
Jordan
1
Likely Pathogenic
Cortical Dysplasia, Complex, with other Brain Malformations 1
Froukh. 2017
de novo mutation
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Contributors
Pratibha Nair: 18.09.2023
Edit History
Pratibha Nair: 18.09.2023
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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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