NM_022739.4:c.1921A>G

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  2. NM_022739.4:c.1921A>G

HGVS Expressions

  • NM_022739.4:c.1921A>G
  • NP_073576.1:p.Thr641Ala
  • NC_000017.11:g.64547750T>C

Associated Genes

SMAD-Specific E3 Ubiquitin Protein Ligase 2
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605532.1.1Egypt2Likely PathogenicReuter et al. 2017 Authors classified these gene variants a...
605532.1.2Egypt2Likely PathogenicReuter et al. 2017 Relative of 605532.1.1
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Contributors

  • Sayeeda Hana: 10.10.2024

Edit History

  • Sayeeda Hana: 30.10.2024
  • Sayeeda Hana: 10.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.