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NM_020427.3:c.229T>C
Home
NM_020427.3:c.229T>C
HGVS Expressions
NG_011494.1:g.6186T>C
NM_020427.3:c.229T>C
NP_065160.1:p.Cys77Arg
Associated Genes
Secreted LY6/PLAUR Domain-Containing Protein 1
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Genomic Location
chr8:142741226
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
121908319
Clinvar
4606
Epidemiology in the Arab World
View Map
Tunisia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
248300.6.1
Tunisia
2
Pathogenic
Mal de Meleda
Charfeddine et al. 2003
248300.6.2
Tunisia
1
Charfeddine et al. 2003
Father of 248300.6.1
248300.6.3
Tunisia
1
Pathogenic
Mal de Meleda
Charfeddine et al. 2003;
Mokni et al. 2004
Mother of 248300.6.1
248300.6.4
Tunisia
1
Pathogenic
Mal de Meleda
Charfeddine et al. 2003;
Mokni et al. 2004
Sister of 248300.6.1
248300.6.5
Tunisia
1
Pathogenic
Mal de Meleda
Charfeddine et al. 2003;
Mokni et al. 2004
Sister of 248300.6.1
248300.7.1
Tunisia
2
Pathogenic
Mal de Meleda
Charfeddine et al. 2003
248300.7.2
Tunisia
2
Pathogenic
Mal de Meleda
Charfeddine et al. 2003
Brother of 248300.7.1
248300.7.3
Tunisia
1
Charfeddine et al. 2003
Father of 248300.7.1
248300.7.4
Tunisia
1
Charfeddine et al. 2003
Mother of 248300.7.1
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Contributors
Sayeeda Hana: 06.10.2020
Edit History
Sayeeda Hana: 06.10.2020
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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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