NM_000342.4:c.1199_1225del

HGVS Expressions

  • NG_007498.1:g.15066_15092del
  • NM_000342.4:c.1199_1225del
  • NP_000333.1:p.Ala400_Ala408del
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Genomic Location

chr17:44258044-44258070

Clinvar Clinical Significance

Pathogenic, Protective

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

17753

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
166900.1Comoros1PathogenicSickle Cell Anemia; Ovalocytosis, Southeast AsianFavale et al. 2009
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