NM_199242.2:c.670C>T

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HGVS Expressions

  • NG_007266.1:g.8943C>T
  • NM_199242.2:c.670C>T
  • NP_954712.1:p.His224Tyr
  • NC_000017.11:g.75840775G>A

Associated Genes

UNC13 Homolog D
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

145607492

Clinvar

464459

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.19Lebanon1Uncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
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Contributors

  • Sayeeda Hana: 03.02.2021

Edit History

  • Sayeeda Hana: 17.02.2021
  • Sayeeda Hana: 16.02.2021
  • Sayeeda Hana: 03.02.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.