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NM_000228.3:c.1296_1297insA
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NM_000228.3:c.1296_1297insA
HGVS Expressions
NG_007116.1:g.29904_29905insA
NM_000228.3:c.1296_1297insA
NP_000219.2:p.Cys433MetfsTer13
NC_000001.11:g.209627571_209627572insT
Associated Genes
Laminin, Beta-3
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Insertion
Epidemiology in the Arab World
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All Countries
Palestine
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
226650.2
Palestine; United Arab Em...
1
Likely Pathogenic
Epidermolysis Bullosa, Junctional 1A, Intermediate
Nakano et al. 2002
Compound heterozygous patient of Palesti...
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Contributors
Edit History
Sami Bizzari: 26.12.2022
Asha Deepthi: 25.11.2022
Pratibha Nair: 21.09.2022
Pratibha Nair: 23.08.2022
Asha Deepthi: 27.08.2020
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