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NM_017780.4:c.6112G>A
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NM_017780.4:c.6112G>A
HGVS Expressions
NG_007009.1:g.179058G>A
NM_017780.4:c.6112G>A
NP_060250.2:p.Asp2038Asn
Associated Genes
Chromodomain Helicase DNA-Binding Protein 7
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Genomic Location
chr8:60852837
Clinvar Clinical Significance
Uncertain Significance
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
747846723
Clinvar
363470
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
214800.1
Lebanon
1
Likely Pathogenic
CHARGE Syndrome
Jalkh et al. 2019
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Contributors
Pratibha Nair: 26.10.2020
Edit History
Pratibha Nair: 26.10.2020
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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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