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Home / CTGA Details
CTGA Details
NM_000124.4:c.2008C>T
HGVS Expressions
NG_009442.1:g.61254C>T
NM_000124.4:c.2008C>T
NP_000115.1:p.Arg670Trp
Genomic Location
chr10:49482848
Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
202080674
ClinVar
190158
Table of contents
HGVS Expressions
Genomic Location
Clinical significance
Associated Genes
Epidemiology in the Arab World
Contributors
Edit History
Associated Genes
Excision Repair Cross-Complementing, Group 6
Algeria
Bahrain
Comoros
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Countries with reported incidence
Countries without reported incidence
Non Arab countries
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele frequency
Allele count
Clinical Significance
Condition(s)
Reference
Remarks
Submitter ID
Submission ID
133540.1.1
10
Lebanon
2
Pathogenic
Cockayne Syndrome B
Chebly et al, 2018
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PDF Copy
View PDF version of NM_000124.4:c.2008C>T
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Societies and Support Groups
Contribute
To contribute with your findings to the content of this record, please fill the CTGA Database Information Submission Form and email it, along with supportive documents, to
cags@emirates.net.ae
.
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Contributors
Sayeeda Hana: 30.10.2019
Edit History
Sayeeda Hana: 30.10.2019