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NM_017653.6:c.1878del
Home
NM_017653.6:c.1878del
HGVS Expressions
NG_009239.2:g.421547del
NM_017653.6:c.1878del
NP_060123.3:p.Lys626AsnfsTer94
NC_000018.10:g.49044189del
Associated Genes
Dymeclin
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Deletion
dbSNP
1471488189
Clinvar
3191
Epidemiology in the Arab World
View Map
All Countries
Egypt
Morocco
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
223800.2
Morocco
2
NA
Likely Pathogenic
Dyggve-Melchior-Clausen Disease
El Ghouzzi et al. 2003
Patient from Family 5 in the publication
223800.12
Egypt
2
NA
Pathogenic
Dyggve-Melchior-Clausen Disease
Maddirevula et al. 2018
223801.13
Egypt
2
NA
Pathogenic
Dyggve-Melchior-Clausen Disease
Maddirevula et al. 2018
223801.17
Egypt
2
NA
Pathogenic
Dyggve-Melchior-Clausen Disease
Maddirevula et al. 2018
223800.G.2
Morocco
6
NA
Likely Pathogenic
Dyggve-Melchior-Clausen Disease
El Ghouzzi et al. 2003
3 patients from Family 3 in the publicat...
223800.G.3
Morocco
4
NA
Likely Pathogenic
Dyggve-Melchior-Clausen Disease
El Ghouzzi et al. 2003
2 patients from Family 4 in the publicat...
223800.G.4
Morocco
1
NA
Likely Pathogenic
Dyggve-Melchior-Clausen Disease
El Ghouzzi et al. 2003
2 patients from Family 6 in the publicat...
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Contributors
Edit History
Pratibha Nair: 31.10.2022
Asha Deepthi: 15.11.2021
Asha Deepthi: 09.03.2021
Asha Deepthi: 03.01.2019
Asha Deepthi: 27.12.2018
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Algeria
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Comoros
Country not specified
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Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
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Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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