Gamma NM_199161.5:c.[209=;224T>C]

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  2. Gamma NM_199161.5:c.[209=;224T>C]

HGVS Expressions

  • NG_021330.1:g.[8052=;8067T>C]
  • NM_199161.5:c.[209=;224T>C]
  • NP_954630.2:p.[Ala70=;Val75Ala]
  • NC_000011.10:g.[18269312=;18269327T>C]

Associated Genes

Serum Amyloid A1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Haplotype

dbSNP

1136743 1136747

Clinvar

18108

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.G.7.7Jordan; Lebanon1Likely PathogenicFamilial Mediterranean FeverMedlej-Hashim et al. 2004 Group of 4 FMF patients without Amyloido...
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Contributors

  • Sayeeda Hana: 18.02.2021

Edit History

  • Sayeeda Hana: 22.02.2021
  • Sayeeda Hana: 18.02.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.