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NM_000267.3:c.574C>T
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NM_000267.3:c.574C>T
HGVS Expressions
NG_009018.1:g.80009C>T
NM_000267.3:c.574C>T
NP_000258.1:p.Arg192Ter
NC_000017.11:g.31169985C>T
Associated Genes
Neurofibromin 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
397514641
Clinvar
40093
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
162200.16
United Arab Emirates
1
Pathogenic
Neurofibromatosis, Type I
Saleh et al. 2021
de novo mutation
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Contributors
Pratibha Nair: 13.09.2021
Edit History
Pratibha Nair: 12.01.2023
Pratibha Nair: 13.09.2021
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