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NM_001042492.3:c.2540T>C
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NM_001042492.3:c.2540T>C
HGVS Expressions
NG_009018.1:g.139179T>C
NM_001042492.3:c.2540T>C
NP_001035957.1:p.Leu847Pro
NC_000017.11:g.31229155T>C
Associated Genes
Neurofibromin 1
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
199474747
Clinvar
68323
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
162200.6
United Arab Emirates
1
Pathogenic
Neurofibromatosis, Type I
Ben-Salem et al. 2014
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Contributors
Sayeeda Hana: 09.07.2020
Edit History
Pratibha Nair: 12.01.2023
Pratibha Nair: 23.08.2022
Sayeeda Hana: 17.07.2020
Sayeeda Hana: 09.07.2020
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