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NM_001814.6:c.319-1G>A
Home
NM_001814.6:c.319-1G>A
HGVS Expressions
NG_007952.1:g.30219G>A
NM_001814.6:c.319-1G>A
Associated Genes
Cathepsin C
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Genomic Location
chr11:88312555
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
Epidemiology in the Arab World
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All Countries
Egypt
Jordan
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
245000.1.1
Jordan
2
Likely Pathogenic
Papillon-Lefevre Syndrome
Hattab and Amin, 2005
Proband
245000.1.2
Jordan
2
Likely Pathogenic
Papillon-Lefevre Syndrome
Hattab and Amin, 2005
Brother of 245000.1.1
245000.1.3
Jordan
2
Likely Pathogenic
Papillon-Lefevre Syndrome
Hattab and Amin, 2005
Sister of 245000.1.1
245000.5.1
Egypt
2
Likely Pathogenic
Papillon-Lefevre Syndrome
Hewitt et al. 2004
The patient also had a grandfather with ...
245000.5.2
Egypt
1
Likely Pathogenic
Hewitt et al. 2004
Unaffected father of 245000.5.1
245000.5.3
Egypt
1
Likely Pathogenic
Hewitt et al. 2004
Unaffected mother of 245000.5.1
245000.5.4
Egypt
1
Likely Pathogenic
Hewitt et al. 2004
Unaffected brother of 245000.5.1
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Contributors
Sayeeda Hana: 28.01.2020
Edit History
Rahila Mir: 14.02.2022
Sayeeda Hana: 04.02.2020
Sayeeda Hana: 28.01.2020
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Arab Countries with reported incidence
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