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NM_002640.4:c.947del
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NM_002640.4:c.947del
HGVS Expressions
NG_052876.1:g.22073del
NM_002640.4:c.947del
NP_942130.1:p.Lys316fs
Associated Genes
SERPIN Family B, Member 8
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Genomic Location
chr18:63987100
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
762923677
Clinvar
254198
Epidemiology in the Arab World
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Tunisia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
617115.1.1
Tunisia
2
Pathogenic
Peeling Skin Syndrome 5
Pigors et al. 2016
617115.1.2
Tunisia
2
Pathogenic
Peeling Skin Syndrome 5
Pigors et al. 2016
Sibling of 617115.1.1
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Contributors
Pratibha Nair: 08.06.2020
Edit History
Sayeeda Hana: 04.10.2020
Pratibha Nair: 08.06.2020
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