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NM_004415.3:c.7097G>A
Home
NM_004415.3:c.7097G>A
HGVS Expressions
NG_008803.1:g.47723G>A
NM_004415.3:c.7097G>A
NP_004406.2:p.Arg2366His
Associated Genes
Desmoplakin
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Genomic Location
chr6:7584359
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
387906618
Clinvar
29672
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
607655.1.1
Saudi Arabia
2
Pathogenic
Skin Fragility-Woolly Hair Syndrome
Al-Owain et al. 2011
Index patient
607655.1.2
Saudi Arabia
2
Pathogenic
Skin Fragility-Woolly Hair Syndrome
Al-Owain et al. 2011
Brother of 607655.1.1
607655.1.3
Saudi Arabia
2
Pathogenic
Skin Fragility-Woolly Hair Syndrome
Al-Owain et al. 2011
Brother of 607655.1.1
607655.1.4
Saudi Arabia
1
Pathogenic
Al-Owain et al. 2011
Unaffected father of 607655.1.1
607655.1.5
Saudi Arabia
1
Pathogenic
Al-Owain et al. 2011
Unaffected mother of 607655.1.1
607655.1.6
Saudi Arabia
2
Pathogenic
Skin Fragility-Woolly Hair Syndrome
Al-Owain et al. 2011
Cousin of 607655.1.1
607655.1.7
Saudi Arabia
2
Pathogenic
Skin Fragility-Woolly Hair Syndrome
Al-Owain et al. 2011
Cousin of 607655.1.1
607655.1.8
Saudi Arabia
1
Pathogenic
Al-Owain et al. 2011
Unaffected father of 607655.1.6
607655.1.9
Saudi Arabia
1
Pathogenic
Al-Owain et al. 2011
Unaffected mother of 607655.1.6
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Contributors
Sayeeda Hana: 31.07.2019
Edit History
Sayeeda Hana: 31.07.2019
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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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