NM_016390.4:c.1058C>T

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HGVS Expressions

  • NG_046991.1:g.10341G>A
  • NM_016390.4:c.1058C>T
  • NP_057474.2:p.Thr353Met
  • NC_000009.12:g.128823751G>A

Associated Genes

Spout Domain-Containing Methyltransferase 1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1018452459

Clinvar

3252018

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617614.1.1Syria2Likely PathogenicReuter et al. 2017 Authors classified this gene variant as ...
617614.1.2Syria2Likely PathogenicReuter et al. 2017 Relative of 617614.1.1
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Contributors

  • Sayeeda Hana: 27.09.2024

Edit History

  • Sayeeda Hana: 25.10.2024
  • Sayeeda Hana: 27.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.