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NM_001042492.3:c.7317dup
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NM_001042492.3:c.7317dup
HGVS Expressions
NG_009018.1:g.259271dupA
NM_001042492.3:c.7317dup
NP_001035957.1:p.Ala2440SerfsTer8
NC_000017.11:g.31349247dup
Associated Genes
Neurofibromin 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
1597858633
Clinvar
1456524
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
162200.12
Lebanon
1
Likely Pathogenic
Neurofibromatosis, Type I
Jalkh et al. 2019
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Contributors
Pratibha Nair: 24.11.2020
Edit History
Pratibha Nair: 10.11.2022
Rahila Mir: 14.02.2022
Pratibha Nair: 24.11.2020
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