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

View Map
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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