NM_000517.6:c.227A>T

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HGVS Expressions

  • NG_000006.1:g.34119A>T
  • NM_000517.6:c.227A>T
  • NP_000508.1:p.Asp76Val
  • NC_000016.10:g.173256A>T

Associated Genes

Hemoglobin--Alpha Locus 2
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

281864859

Clinvar

15693

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
141850.2Saudi Arabia1Uncertain SignificanceBurnichon et al. 2006
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Contributors

  • Pratibha Nair: 02.03.2023

Edit History

  • Pratibha Nair: 02.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.