NM_001122681.2:c.1429C>T

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HGVS Expressions

  • NG_011609.1:g.44331C>T
  • NM_001122681.2:c.1429C>T
  • NP_001116153.1:p.Arg477Trp
  • NC_000004.12:g.2832353C>T

Associated Genes

SH3 Domain-Binding Protein 2
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Clinvar Clinical Significance

Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

148761331

Clinvar

348592

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.24Lebanon1Uncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
249100.36Lebanon1Uncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
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Contributors

  • Sayeeda Hana: 08.02.2021

Edit History

  • Sayeeda Hana: 17.02.2021
  • Sayeeda Hana: 16.02.2021
  • Sayeeda Hana: 11.02.2021
  • Sayeeda Hana: 08.02.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.