NM_000184.2:c.-167C>A

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  2. NM_000184.2:c.-167C>A

HGVS Expressions

  • NG_000007.3:g.42721C>A
  • NM_000184.2:c.-167C>A

Associated Genes

Hemoglobin, Gamma G
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Genomic Location

chr11:5254895

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

4809449

Clinvar

15001

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
141749.G.2.1Algeria12PathogenicFetal Hemoglobin Quantitative Trait Locus 1Zertal-Zidani et al. 1999 10 males and 2 females from a large Alge...
141749.G.2.2Algeria4PathogenicFetal Hemoglobin Quantitative Trait Locus 1Zertal-Zidani et al. 1999 4 females belonging to the same Algerian...
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Contributors

  • Sayeeda Hana: 22.11.2020

Edit History

  • Sayeeda Hana: 25.03.2021
  • Sayeeda Hana: 22.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.