NM_000342.4:c.1199_1225del

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  2. 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

Associated Genes

Solute Carrier Family 4 (Anion Exchanger), Member 1
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Genomic Location

chr17:44258044-44258070

Clinvar Clinical Significance

Pathogenic, Protective

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

769664228

Clinvar

17753

Epidemiology in the Arab World

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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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Contributors

  • Sayeeda Hana: 19.11.2020

Edit History

  • Sayeeda Hana: 22.11.2020
  • Sayeeda Hana: 19.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.