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NM_015884.3:c.1424T>C
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NM_015884.3:c.1424T>C
HGVS Expressions
NG_012797.1:g.47982T>C
NM_015884.3:c.1424T>C
NP_056968.1:p.Phe475Ser
NC_000023.11:g.21882519T>C
Associated Genes
Membrane-Bound Transcription Factor Protease, Site 2
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
122468179
Clinvar
11405
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
308205.1.1
Lebanon
1
Pathogenic
IFAP Syndrome with or without Bresheck Syndrome
Nemer et al, 2017;
Bornholdt et al. 2013
Sibling of 308205.1.2
308205.1.2
Lebanon
1
Pathogenic
IFAP Syndrome with or without Bresheck Syndrome
Nemer et al, 2017;
Bornholdt et al. 2013
Sibling of 308205.1.1
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Contributors
Pratibha Nair: 04.07.2018
Edit History
Pratibha Nair: 08.11.2022
Pratibha Nair: 03.01.2019
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