NM_004119.2:c.2504A>T

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  2. NM_004119.2:c.2504A>T

HGVS Expressions

  • NG_007066.1:g.87065A>T
  • NM_004119.2:c.2504A>T
  • NP_004110.2:p.Asp835Val
  • NC_000013.11:g.28018504T>A

Associated Genes

Fms-Related Tyrosine Kinase 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121909646

Clinvar

16272

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208900.G.1LebanonPathogenicLeukemia, Acute MyeloidSalem et al. 2017b two patients exhibiting mutant NPM1 and ...
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Contributors

  • Sami Bizzari: 25.05.2021

Edit History

  • Sami Bizzari: 25.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.