NM_000129.3:c.782G>A

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  2. NM_000129.3:c.782G>A

HGVS Expressions

  • NG_008107.1:g.77364G>A
  • NM_000129.3:c.782G>A
  • NP_000120.2:p.Arg261His
  • NC_000006.12:g.6248328C>T

Associated Genes

Factor XIII, A1 Subunit
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121913071

Clinvar

16531

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613225.3.1Syria2PathogenicFactor XIII, A Subunit, Deficiency ofKangsadalampai et al. 1999
613225.3.2Syria2PathogenicKangsadalampai et al. 1999 Unaffected father of 613225.3.1
613225.3.3Syria2PathogenicKangsadalampai et al. 1999 Unaffected mother of 613225.3.1
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Contributors

  • Sayeeda Hana: 30.03.2020

Edit History

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 30.03.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.